169 results match your criteria The Application of Clinical Genetics [Journal]


MTHFR C677T polymorphism and risk of nonsyndromic cleft lip with or without cleft palate in the Moroccan population.

Appl Clin Genet 2019 7;12:51-54. Epub 2019 Mar 7.

Laboratory of Medical Genetics and Molecular Pathology, Faculty of Medicine and Pharmacy Casablanca, University Hassan II, Casablanca, Morocco,

Background: Nonsyndromic cleft lip with or without cleft palate (NSCL/P) is one of the most common craniofacial malformations observed. Several studies suggest that the decrease in folate has been associated with a higher risk of NSCL/P. The present study aimed to determine the association of 5,10-methylenetetrahydrofolate reductase (MTHFR) C677T polymorphism gene with the occurrence of NSCL/P in the Moroccan population. Read More

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http://dx.doi.org/10.2147/TACG.S194166DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6410759PMC

Multiple phenotypic domains of Fabry disease and their relevance for establishing genotype- phenotype correlations.

Appl Clin Genet 2019 5;12:35-50. Epub 2019 Mar 5.

Department of Genetics, Faculty of Medicine, University of Porto, Alameda Hernâni Monteiro, 4200-319 Porto, Portugal,

Fabry disease (FD) is a rare X-linked glycosphingolipidosis resulting from deficient α-galactosidase A (AGAL) activity, caused by pathogenic mutations in the gene. In males, the multisystemic involvement and the severity of tissue injury are critically dependent on the level of AGAL residual enzyme activity (REA) and on the metabolic load of the disease, but organ susceptibility to damage varies widely, with heart appearing as the most vulnerable to storage pathology, even with relatively high REA. The expression of FD can be conceived as a multidomain phenotype, where each of the component domains is the laboratory or clinical expression of the causative mutation along a complex pathophysiologic cascade pathway. Read More

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http://dx.doi.org/10.2147/TACG.S146022DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6407513PMC

c.259A>C in the fibrinogen gene of alpha chain () is a fibrinogen with thrombotic phenotype.

Appl Clin Genet 2019 28;12:27-33. Epub 2019 Feb 28.

Cancer Research Center, Wohl Institute of Translational Medicine, Sheba Medical Center, Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.

Introduction: Dysfibrinogenemia is a rare inherited disease that results from mutation in one of the three fibrinogen genes. Diagnosis can be misleading since it may present as a bleeding tendency or thrombosis and a specific coagulation test for diagnosis is not routinely available.

Aim: To search for a new candidate gene of thrombophilia in a family with three generations of arterial and venous thrombosis. Read More

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http://dx.doi.org/10.2147/TACG.S190599DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6400116PMC
February 2019
1 Read

Two novel variants in the gene identified in cases with craniosynostosis.

Appl Clin Genet 2019 12;12:19-25. Epub 2019 Feb 12.

Choremio Research Laboratory, Department of Medical Genetics, Faculty of Medicine, National and Kapodistrian University of Athens, Athens, Greece,

Craniosynostosis (CS) is a condition where one or more of the cranial sutures fuse prematurely. It affects almost 1/2,000 newborns, and includes both syndromic and non-syndromic cases. To date, variants in over 70 different genes have been associated with the expression of CS. Read More

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http://dx.doi.org/10.2147/TACG.S190855DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6385741PMC
February 2019
2 Reads

Genetics of COPA syndrome.

Appl Clin Genet 2019 8;12:11-18. Epub 2019 Feb 8.

Pediatric Allergy and Immunology Unit, Department of Pediatrics, Postgraduate Institute of Medical Education and Research, Chandigarh 160012, India,

Inborn errors of immunity usually not only result in immunodeficiency but may also manifest as immune dysregulation in the form of autoinflammation, autoimmunity, or sometimes malignancy. One of the most recently discovered monogenic disorder of immune dysregulation is COPA syndrome. COPA syndrome is an inherited autoimmune disorder caused by mutations in gene. Read More

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https://www.dovepress.com/genetics-of-copa-syndrome-peer-rev
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http://dx.doi.org/10.2147/TACG.S153600DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6372856PMC
February 2019
7 Reads

A two gene-based risk score predicts alcoholic cirrhosis development in males with at-risk alcohol consumption.

Appl Clin Genet 2019 10;12:1-10. Epub 2019 Jan 10.

Department of Translational and Precision Medicine, Sapienza University of Rome, Rome, Italy,

Background: Alcoholic cirrhosis represents 1% of all cause-of-deaths worldwide. Its incidence is higher in males and results from the combination of environmental and genetic factors. Among all the genetic determinants of alcoholic cirrhosis, the patatin-like phospholipase domain protein 3 () rs738409 represents the most widely validated determinant. Read More

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http://dx.doi.org/10.2147/TACG.S187922DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6330982PMC
January 2019
3 Reads

Adult-onset type II citrullinemia: Current insights and therapy.

Appl Clin Genet 2018 12;11:163-170. Epub 2018 Dec 12.

Department of Pediatrics, Yamagata University School of Medicine, Yamagata, Japan,

Citrin deficiency is a recessively inherited metabolic disorder with age-dependent clinical manifestations. It causes neonatal intrahepatic cholestasis (NICCD) and adult-onset type II citrullinemia (CTLN2). Patients with NICCD present with intrahepatic cholestasis in the neonatal period and usually respond to the treatment with medium-chain triglyceride (MCT) supplement and lactose-restricted formula. Read More

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https://www.dovepress.com/adult-onset-type-ii-citrullinemia-
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http://dx.doi.org/10.2147/TACG.S162084DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6296197PMC
December 2018
16 Reads

A novel de novo mutation in a patient with Holt-Oram syndrome.

Appl Clin Genet 2018 23;11:157-162. Epub 2018 Nov 23.

Center for Research on Congenital Anomalies and Rare Diseases (CIACER), Department of Basic Medical Sciences, Universidad Icesi, Cali, Valle del Cauca, Colombia,

Holt-Oram syndrome (HOS) is an autosomal dominant disorder characterized by congenital cardiac defects and congenital deformities of the upper limbs. Herein, we report the case of a 2-year-old patient presenting with clinical diagnostic criteria of HOS with interatrial and interventricular communication associated with hip dysplasia and upper limb reduction composed of radial ray anomaly. A novel de novo, potentially pathogenic variant in the gene at NM_181486. Read More

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http://dx.doi.org/10.2147/TACG.S183418DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6260184PMC
November 2018
4 Reads

Novel gene mutation in a patient with Menkes disease.

Appl Clin Genet 2018 22;11:151-155. Epub 2018 Nov 22.

Health Sciences Faculty, Universidad Icesi, Cali, Colombia,

Background: Menkes disease is a congenital neurodegenerative disorder caused by gene mutations. Clinical features include epilepsy, growth delay, reduced muscle strength, skin laxity, abnormal hair, and urologic abnormalities.

Case Presentation: We describe an infant with developmental delay, neurologic degeneration, and kinky hair. Read More

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http://dx.doi.org/10.2147/TACG.S180087DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6254535PMC
November 2018
17 Reads

The role of promoter gene polymorphisms in causing hypodontia: a study in the Jordanian population.

Appl Clin Genet 2018 21;11:145-149. Epub 2018 Nov 21.

Department of Applied Dental Sciences, Faculty of Applied Medical Sciences, Jordan University of Science and Technology, Irbid, Jordan.

Background: The congenital absence of one or few teeth, hypodontia, is considered one of the utmost dental ageneses in human beings. Several genes have been shown to be involved in the development of hypodontia such as paired box gene 9 (). The expression of is controlled by several polymorphic elements in the promoter region of the gene on 14q13. Read More

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http://dx.doi.org/10.2147/TACG.S183212DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6254497PMC
November 2018
2 Reads

The genetics of congenital central hypoventilation syndrome: clinical implications.

Appl Clin Genet 2018 15;11:135-144. Epub 2018 Nov 15.

Division of Pediatric Pulmonology and Sleep Medicine, Children's Hospital Los Angeles, Los Angeles, CA, USA,

Congenital central hypoventilation syndrome (CCHS) is a rare genetic disorder of the autonomic nervous system (ANS) and respiratory control. This disorder, formerly referred to as Ondine's curse, is due to a mutation in the gene that affects the development of the neural crest cells. CCHS has an autosomal dominant pattern of inheritance. Read More

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http://dx.doi.org/10.2147/TACG.S140629DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6241683PMC
November 2018
5 Reads

Potential oligogenic disease of mental retardation, short stature, spastic paraparesis, and osteopetrosis.

Appl Clin Genet 2018 8;11:129-134. Epub 2018 Nov 8.

Department of Neurosciences, King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia,

The interaction of multiple genetic factors, as opposed to monogenic inheritance, has been suspected to play a role in many diseases. This interaction has been described as an oligogenic inheritance model, which may be a useful tool in explaining certain clinical observations. The purpose of this study was to search for novel genetic defects among members of a family with traits that include mental retardation, short stature, osteopetrosis, calcification of basal ganglia, and thinning of the corpus callosum. Read More

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https://www.dovepress.com/potential-oligogenic-disease-of-me
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http://dx.doi.org/10.2147/TACG.S172176DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6231439PMC
November 2018
17 Reads

Association of mitochondrial DNA copy number with self-rated health status.

Appl Clin Genet 2018 25;11:121-127. Epub 2018 Oct 25.

Department of health sciences research.

Purpose: In aging adults, mitochondrial dysfunction may be an important contributor. We evaluated the association between mitochondrial DNA (mtDNA) copy number, which is a biomarker for mitochondrial function, and self-rated health status.

Patients And Methods: We conducted a cross-sectional study of patients enrolled within the Mayo Clinic Biobank. Read More

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http://dx.doi.org/10.2147/TACG.S167640DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6207265PMC
October 2018
3 Reads

Pena-Shokeir syndrome: current management strategies and palliative care.

Appl Clin Genet 2018 25;11:111-120. Epub 2018 Oct 25.

Department of Biochemistry, Genetics and Microbiology, Faculty of Natural and Agricultural Sciences, University of Pretoria, Pretoria, South Africa.

Pena-Shokeir syndrome (PSS) type 1, also known as fetal akinesia deformation sequence, is a rare genetic syndrome that almost always results in intrauterine or early neonatal death. It is characterized by markedly decreased fetal movements, intrauterine growth restriction, joint contractures, short umbilical cord, and features of pulmonary hypoplasia. Antenatal diagnosis can be difficult. Read More

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https://www.dovepress.com/pena-shokeir-syndrome-current-mana
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http://dx.doi.org/10.2147/TACG.S154643DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6207248PMC
October 2018
15 Reads

Aortic calcification in Gaucher disease: a case report.

Appl Clin Genet 2018 17;11:107-110. Epub 2018 Oct 17.

Medical Genomic Research Department, King Abdullah International Medical Research Center, King Saud Bin Abdulaziz University for Health Sciences, Riyadh, Saudi Arabia,

Gaucher disease is the most common sphingolipid storage disease and is present in all ethnic groups. Its symptoms span all systems including the cardiovascular system. The health care provider should be vigilant regarding this potentially fatal complication. Read More

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https://www.dovepress.com/aortic-calcification-in-gaucher-di
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http://dx.doi.org/10.2147/TACG.S180995DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6199969PMC
October 2018
19 Reads

IRS-1 genetic polymorphism (r.2963G>A) in type 2 diabetes mellitus patients associated with insulin resistance.

Appl Clin Genet 2018 28;11:99-106. Epub 2018 Sep 28.

Department of Clinical and Chemical Pathology, Benha Faculty of Medicine, Benha University, Benha, Egypt,

Background: Insulin receptor substrate (IRS) molecules are key mediators in insulin signaling. Several polymorphisms in the IRS genes have been identified, but only the Gly to Arg 972 substitution of IRS-1 seems to have a pathogenic role in the development of type 2 diabetes mellitus (T2DM). Many polymorphisms described in IRS-1 gene, especially Gly972Arg substitution, are shown to be associated with insulin resistance (IR) in T2DM. Read More

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http://dx.doi.org/10.2147/TACG.S171096DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6167972PMC
September 2018
1 Read

Utility of trio-based exome sequencing in the elucidation of the genetic basis of isolated syndromic intellectual disability: illustrative cases.

Appl Clin Genet 2018 22;11:93-98. Epub 2018 Aug 22.

Human Genome and Stem-Cell Research Center, Department of Genetics and Evolutionary Biology, Institute of Biosciences, University of São Paulo, São Paulo, Brazil,

Introduction: Exome sequencing is recognized as a powerful tool for identifying the genetic cause of intellectual disability (ID). It is uncertain, however, whether only the exome of the proband should be sequenced or if the sequencing of parental genomes is also required, and the resulting increase in diagnostic yield justifies the increase in costs.

Patients And Methods: We sequenced the exomes of eight individuals with sporadic syndromic ID and their parents. Read More

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https://www.dovepress.com/utility-of-trio-based-exome-sequen
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http://dx.doi.org/10.2147/TACG.S165799DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6110279PMC
August 2018
9 Reads

Clinical features related to xeroderma pigmentosum in a Brazilian patient diagnosed at advanced age.

Appl Clin Genet 2018 10;11:89-92. Epub 2018 Aug 10.

Department of Post Graduate Program in Health Science, São Francisco University, Bragança Paulista, São Paulo, Brazil,

Xeroderma pigmentosum is a rare autosomal recessive genetic disease characterized by extreme sensitivity due to solar radiation and deficiency in excision repair DNA. Those factors promote a set of skin abnormalities such as keratosis, hyperpigmentation, tumors in areas exposed to sunlight, and ocular and, eventually, neurological disorders. In the present review, we summarize the main clinical features related to a case of xeroderma pigmentosum in a man who was not diagnosed until he was 45 years old. Read More

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https://www.dovepress.com/clinical-features-related-to-xerod
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http://dx.doi.org/10.2147/TACG.S155083DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6089094PMC
August 2018
16 Reads

Independent of DAZL-T54A variant and AZF microdeletion in a sample of Egyptian patients with idiopathic non-obstructed azoospermia.

Appl Clin Genet 2018 19;11:81-87. Epub 2018 Jul 19.

Department of Molecular Genetics and Enzymology, Human Genetics and Genome Research Division, National Research Centre, Cairo, Egypt.

Background: The microdeletion events that occur in the Y chromosome-azoospermia factor () region may lead to dyszoospermia. Also, the deleted azoospermia () gene on AZFc and autosomal deleted azoospermia like gene () are suggested to represent impairment, so it is interesting to determine the independency pattern of the region and gene in azoospermic patients.

Aim: To study the molecular characterization of and in 64 idiopathic non-obstructed azoospermia patients and 30 sexually reproductive men. Read More

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https://www.dovepress.com/independent-of-dazl-t54a-variant-a
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http://dx.doi.org/10.2147/TACG.S158297DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6055888PMC
July 2018
19 Reads

Prenatal diagnosis and molecular cytogenetic characterization of a de novo duplication of 15q24.3-q26.1.

Appl Clin Genet 2018 3;11:77-80. Epub 2018 Jul 3.

Genetics Unit, Unidad de Genética, Hospital Clínica Vistahermosa, Alicante, Spain,

Reported cases of distal 15q interstitial duplications are uncommon and do not result in a recognizable pattern of abnormalities. Some studies report prenatal overgrowth, while others describe growth retardation. We present molecular cytogenetic characterization of a 14 Mb interstitial duplication, encompassing 81 Online Mendelian Inheritance in Man (OMIM) genes, in a fetus with single umbilical artery and short limbs. Read More

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http://dx.doi.org/10.2147/TACG.S159377DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6037148PMC
July 2018
16 Reads

Achondrogenesis type 1A: clinical, histologic, molecular, and prenatal ultrasound diagnosis.

Appl Clin Genet 2018 25;11:69-73. Epub 2018 May 25.

Department of Basic Medical Sciences, Center for Research on Congenital Anomalies and Rare Diseases (CIACER), Universidad Icesi, Cali, Colombia.

Background: Achondrogenesis type IA (ACG1A) is a rare, lethal autosomal recessive chondrodysplasia affecting endochondral bone ossification and differentiation, causing intrauterine growth restriction, narrow thorax, and short limbs. Mutations in , which encodes Golgi microtubule-binding protein 210 in the Golgi apparatus, alter protein transport in tissues.

Case Presentation: A 28-week gestation male fetus was diagnosed with ACG1A by clinical, radiological, histologic, and molecular findings. Read More

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http://dx.doi.org/10.2147/TACG.S157235DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5973320PMC
May 2018
2 Reads

Mutation analysis of BRCA1/2 mutations with special reference to polymorphic SNPs in Indian breast cancer patients.

Appl Clin Genet 2018 9;11:59-67. Epub 2018 May 9.

School of Sciences, Gujarat University, Ahmedabad, Gujarat, India.

Background: Germline mutations BRCA1 and BRCA2 contribute almost equally in the causation of breast cancer (BC). The type of mutations in the Indian population that cause this condition is largely unknown.

Purpose: In this cohort, 79 randomized BC patients were screened for various types of BRCA1 and BRCA2 mutations including frameshift, nonsense, missense, in-frame and splice site types. Read More

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http://dx.doi.org/10.2147/TACG.S155955DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5953318PMC
May 2018
10 Reads
1 Citation

Determination of genotypic and clinical characteristics of Colombian patients with mucopolysaccharidosis IVA.

Appl Clin Genet 2018 24;11:45-57. Epub 2018 Apr 24.

Universidad Nacional de Colombia, Departamento de morfología, Maestría de genética humana, Bogotá.

Background: As mucopolysaccharidosis IVA (MPS IVA) is the most frequent MPS in Colombia, this paper aims to describe its clinical and mutational characteristics in 32 diagnosed patients included in this study.

Methods: Genotyping was completed by amplification and Sanger sequencing of the GALNS gene. The SWISS-model platform was used for bioinformatic analysis, and mutant proteins were generated by homology from the wild-type GALNS code 4FDI template from the Protein Data Bank (PDB) database. Read More

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https://www.dovepress.com/determination-of-genotypic-and-cli
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http://dx.doi.org/10.2147/TACG.S141881DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5926073PMC
April 2018
20 Reads

Fetal chondrodysplasia punctata associated with maternal autoimmune diseases: a review.

Appl Clin Genet 2018 20;11:31-44. Epub 2018 Apr 20.

Department of Pediatrics, Division of Clinical and Metabolic Genetics, the Hospital for Sick Children, University of Toronto, Toronto, ON, Canada.

Chondrodysplasia punctata (CDP) is a skeletal abnormality characterized by premature calcification that is usually noticeable in the prenatal period and infancy. Etiologically, the condition is heterogeneous, and the causes include fetal conditions such as chromosome abnormalities, peroxisomal disorders, lysosomal storage disorders, cholesterol synthesis defects and abnormal vitamin K metabolism, as well as maternal diseases such as severe malabsorption and exposure to teratogens. An association between CDP and maternal autoimmune disease was first observed and reported by Curry et al and Costa et al in 1993 and expanded by Chitayat et al in 2010. Read More

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http://dx.doi.org/10.2147/TACG.S150982DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5918624PMC
April 2018
2 Reads

Clinical and molecular genetic features of Hb H and AE Bart's diseases in central Thai children.

Appl Clin Genet 2018 3;11:23-30. Epub 2018 Apr 3.

Division of Hematology/Oncology, Department of Pediatrics, Phramongkutklao Hospital and College of Medicine, Bangkok, Thailand.

Background: α-Thalassemia, one of the major thalassemia types in Thailand, is caused by either deletion or non-deletional mutation of one or both α-globin genes. Inactivation of three α-globin genes causes hemoglobin H (Hb H) disease, and the combination of Hb H disease with heterozygous hemoglobin E (Hb E) results in AE Bart's disease.

Objective: This study aimed to characterize the clinical and hematological manifestations of 76 pediatric patients with Hb H and AE Bart's diseases treated at Phramongkutklao Hospital, a tertiary care center for thalassemia patients in central Thailand. Read More

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http://dx.doi.org/10.2147/TACG.S161152DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5892615PMC
April 2018
3 Reads

Novel mutation in gene associated with congenital hypertrichosis and acromegaloid facial features, without cardiac or skeletal anomalies: a new phenotype.

Appl Clin Genet 2018 23;11:15-21. Epub 2018 Mar 23.

Department of Basic Medical Sciences, Center for Research on Congenital Anomalies and Rare Diseases (CIACER), Universidad Icesi, Cali, Valle del Cauca, Colombia.

Introduction: Mutations in are associated with Cantú syndrome (CS), a very rare genetic disorder characterized by congenital hypertrichosis, acromegaloid facial appearance (AFA), cardiomegaly, and skeletal anomalies.

Case Report: We report an 8-year-old female patient with congenital generalized hypertrichosis and coarse facial appearance but without cardiovascular or skeletal compromise. Whole exome sequencing revealed a novel de novo heterozygous mutation in . Read More

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http://dx.doi.org/10.2147/TACG.S155022DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5870921PMC
March 2018
4 Reads

Tetrasomy 18p: case report and review of literature.

Appl Clin Genet 2018 8;11:9-14. Epub 2018 Feb 8.

Developmental Medicine Department, King Abdullah International Medical Research Center, King Abdulaziz Medical City, Ministry of National Guard Health Affairs, Riyadh, Saudi Arabia.

Tetrasomy 18p syndrome (Online Mendelian Inheritance in Man 614290) is a very rare chromosomal disorder that is caused by the presence of isochromosome 18p, which is a supernumerary marker composed of two copies of the p arm of chromosome 18. Most tetrasomy 18p cases are de novo cases; however, familial cases have also been reported. It is characterized mainly by developmental delays, cognitive impairment, hypotonia, typical dysmorphic features, and other anomalies. Read More

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https://www.dovepress.com/tetrasomy-18p-case-report-and-revi
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http://dx.doi.org/10.2147/TACG.S153469DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5811181PMC
February 2018
10 Reads

Evaluation of amplification refractory mutation system (ARMS) technique for quick and accurate prenatal gene diagnosis of variant in choroideremia.

Appl Clin Genet 2018 19;11:1-8. Epub 2017 Dec 19.

Key Laboratory of Epigenetics and Oncology, the Research Center for Precision Medicine, Southwest Medical University, Luzhou.

Choroideremia is a rare X-linked recessive inherited disorder that causes chorioretinal dystrophy leading to visual impairment in its early stages which finally causes total blindness in the affected person. It is caused due to mutations in the gene. In this study, we have recruited a pedigree with choroideremia and detected a nonsense variant (c. Read More

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http://dx.doi.org/10.2147/TACG.S144383DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5741072PMC
December 2017
11 Reads

gene mutations: mechanisms of familial dysautonomia and gene-targeting therapies.

Appl Clin Genet 2017 15;10:95-103. Epub 2017 Dec 15.

Department of Biological Sciences, Fordham University, Bronx, NY, USA.

The successful completion of the Human Genome Project led to the discovery of the molecular basis of thousands of genetic disorders. The identification of the mutations that cause familial dysautonomia (FD), an autosomal recessive disorder that impacts sensory and autonomic neurons, was aided by the release of the human DNA sequence. The identification and characterization of the genetic cause of FD have changed the natural history of this disease. Read More

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http://dx.doi.org/10.2147/TACG.S129638DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5735983PMC
December 2017
6 Reads

Novel mutation of FKBP10 in a pediatric patient with osteogenesis imperfecta type XI identified by clinical exome sequencing.

Appl Clin Genet 2017 7;10:75-83. Epub 2017 Nov 7.

Faculty of Medicine, Universidad Nacional de Colombia, Bogotá DC, Colombia.

Osteogenesis imperfecta (OI) is a hereditary disease characterized by bone fragility caused by mutations in the proteins that support the formation of the extracellular matrix in the bone. The diagnosis of OI begins with clinical suspicion, from phenotypic findings at birth, low-impact fractures during childhood or family history that may lead to it. However, the variability in the semiology of the disease does not allow establishing an early diagnosis in all cases, and unfortunately, specific clinical data provided by the literature only report 28 patients with OI type XI. Read More

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http://dx.doi.org/10.2147/TACG.S126277DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5683792PMC
November 2017
11 Reads

gene mutations: mechanisms of Smith-Magenis syndrome.

Appl Clin Genet 2017 3;10:85-94. Epub 2017 Nov 3.

Department of Translational Medical Sciences (DISMET), Section of Pediatric Clinical Genetics, University of Naples "Federico II", Naples, Italy.

Smith-Magenis syndrome (SMS; OMIM #182290) is a complex genetic disorder characterized by distinctive physical features, developmental delay, cognitive impairment, and a typical behavioral phenotype. SMS is caused by interstitial 17p11.2 deletions, encompassing multiple genes and including the retinoic acid-induced 1 gene (), or by mutations in itself. Read More

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http://dx.doi.org/10.2147/TACG.S128455DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5680963PMC
November 2017
8 Reads

Primary ciliary dyskinesia: mechanisms and management.

Appl Clin Genet 2017 19;10:67-74. Epub 2017 Sep 19.

Fred A Litwin Family Centre in Genetic Medicine, University Health Network and Mount Sinai Hospital, Department of Medicine, University of Toronto, Toronto, ON, Canada.

Primary ciliary dyskinesia is a genetically heterogeneous disorder of motile cilia that is predominantly inherited in an autosomal-recessive fashion. It is associated with abnormal ciliary structure and/or function leading to chronic upper and lower respiratory tract infections, male infertility, and situs inversus. The estimated prevalence of primary ciliary dyskinesia is approximately one in 10,000-40,000 live births. Read More

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http://dx.doi.org/10.2147/TACG.S127129DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5614735PMC
September 2017
35 Reads

Maple syrup urine disease: mechanisms and management.

Appl Clin Genet 2017 6;10:57-66. Epub 2017 Sep 6.

Center for Individualized Medicine.

Maple syrup urine disease (MSUD) is an inborn error of metabolism caused by defects in the branched-chain α-ketoacid dehydrogenase complex, which results in elevations of the branched-chain amino acids (BCAAs) in plasma, α-ketoacids in urine, and production of the pathognomonic disease marker, alloisoleucine. The disorder varies in severity and the clinical spectrum is quite broad with five recognized clinical variants that have no known association with genotype. The classic presentation occurs in the neonatal period with developmental delay, failure to thrive, feeding difficulties, and maple syrup odor in the cerumen and urine, and can lead to irreversible neurological complications, including stereotypical movements, metabolic decompensation, and death if left untreated. Read More

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http://dx.doi.org/10.2147/TACG.S125962DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5593394PMC
September 2017
10 Reads

Treating mutation resistance in non-small cell lung cancer - role of osimertinib.

Appl Clin Genet 2017 26;10:49-56. Epub 2017 Jul 26.

Department of Oncology-Hematology.

The discovery of mutations in significantly changed the treatment paradigm of patients with -mutant non-small cell lung cancer (NSCLC), a particular group of patients with different clinical characteristics and outcome to -wild-type patients. In these patients, the treatment of choice as first-line therapy is first- or second-generation EGFR-tyrosine kinase inhibitors (EGFR-TKIs), such as gefitinib, erlotinib, or afatinib. Inevitably, after the initial response, all patients become refractory to these drugs. Read More

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http://dx.doi.org/10.2147/TACG.S103471DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5536882PMC
July 2017
11 Reads

Clinical utility of nitisinone for the treatment of hereditary tyrosinemia type-1 (HT-1).

Authors:
Anibh Martin Das

Appl Clin Genet 2017 24;10:43-48. Epub 2017 Jul 24.

Department of Pediatrics, Hannover Medical School, Hannover, Germany.

Medical therapy for hereditary hepatorenal tyrosinemia (hereditary tyrosinemia type 1, HT-1) with nitisinone was discovered incidentally, and is a by-product of agrochemistry. It blocks the catabolic pathway of tyrosine, thereby leading to a reduction in the accumulation of toxic metabolites in HT-1. It has to be combined with a low-protein diet supplemented with amino acid mixtures devoid of tyrosine and phenylalanine. Read More

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http://dx.doi.org/10.2147/TACG.S113310DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5533484PMC
July 2017
4 Reads

Genotype and phenotype correlation in intracranial hemorrhage in neonatal factor VII deficiency among Thai children.

Appl Clin Genet 2017 21;10:37-41. Epub 2017 Jun 21.

Division of Genetics, Department of Pediatrics, Phramongkutklao Hospital and College of Medicine, Bangkok, Thailand.

Congenital factor VII (FVII) deficiency is a rare inherited coagulopathy. The clinical manifestations and clinical findings vary widely, ranging from asymptomatic to life-threatening bleeding, including intracranial hemorrhage (ICH), with prolonged prothrombin time, normal partial thromboplastin time and normal platelet counts, which are confirmed by the low level of FVII assay. Treatment consists of fresh frozen plasma (FFP), prothrombin complex concentrates (PCCs), and recombinant activated FVII to treat bleeding and prophylactic therapy. Read More

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http://dx.doi.org/10.2147/TACG.S139788DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5484628PMC
June 2017
14 Reads

Mutation analysis of β-thalassemia in East-Western Indian population: a recent molecular approach.

Appl Clin Genet 2017 11;10:27-35. Epub 2017 May 11.

School of Sciences, Gujarat University, Ahmedabad, Gujarat, India.

Background: β-Thalassemia is the most prevalent genetic disorder in India. Its traits and coinheritance vary from mild to severe conditions, resulting in thalassemia minor, intermediate, and major, depending upon many factors.

Purpose: The objective of this study was to identify the incidence of β-thalassemia traits, their coinheritance, and mutations, as well as to support the patients already diagnosed with β-thalassemia in East-Western Indian population for better management. Read More

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http://dx.doi.org/10.2147/TACG.S127531DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5436775PMC
May 2017
28 Reads

Mitochondrial diseases: advances and issues.

Appl Clin Genet 2017 15;10:21-26. Epub 2017 Feb 15.

Center for Neuromuscular Diseases and Neuropathies, Unit of Neurology, ASST "Spedali Civili", University of Brescia, Brescia, Italy.

Mitochondrial diseases (MDs) are a clinically heterogeneous group of disorders caused by a dysfunction of the mitochondrial respiratory chain. They can be related to mutation of genes encoded using either nuclear DNA or mitochondrial DNA. The advent of next generation sequencing and whole exome sequencing in studying the molecular bases of MDs will bring about a revolution in the field of mitochondrial medicine, also opening the possibility of better defining pathogenic mechanisms and developing novel therapeutic approaches for these devastating disorders. Read More

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http://dx.doi.org/10.2147/TACG.S94267DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5317313PMC
February 2017
22 Reads

Update on the clinical management of Wilson's disease.

Authors:
Peter Hedera

Appl Clin Genet 2017 13;10:9-19. Epub 2017 Jan 13.

Department of Neurology, Vanderbilt University Medical Center, Nashville, TN, USA.

Wilson's disease (WD), albeit relatively rare, is an important genetic metabolic disease because of highly effective therapies that can be lifesaving. It is a great imitator and requires a high index of suspicion for correct and timely diagnosis. Neurologic, psychiatric and hepatologic problems in WD are very nonspecific, and we discuss the most common clinical phenotypes. Read More

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http://dx.doi.org/10.2147/TACG.S79121DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5245916PMC
January 2017
9 Reads

Genetics of tuberous sclerosis complex: implications for clinical practice.

Appl Clin Genet 2017 21;10:1-8. Epub 2016 Dec 21.

Department of Neurology; Shriners Hospitals Pediatric Research Center, Temple University School of Medicine.

Tuberous sclerosis complex (TSC) is a multisystem disorder that results from heterozygous mutations in either or . The primary organ systems that are affected include the brain, skin, lung, kidney, and heart, all with variable frequency, penetrance, and severity. Neurological features include epilepsy, autism, and intellectual disability. Read More

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http://dx.doi.org/10.2147/TACG.S90262DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5189696PMC
December 2016
2 Reads

Advances in the management of erythropoietic protoporphyria - role of afamelanotide.

Appl Clin Genet 2016 12;9:179-189. Epub 2016 Dec 12.

Department of Internal Medicine, Section on Gastroenterology.

Erythropoietic protoporphyria (EPP) and the phenotypically similar disease X-linked protoporphyria (XLPP) are inherited cutaneous porphyrias characterized clinically by acute non-blistering photosensitivity, intolerance to sunlight, and significantly reduced quality of life. They are due to marked overproduction of protoporphyrin (PP) chiefly by erythroblasts and reticulocytes. In EPP, the underlying genetic defect is in the ferrochelatase gene, which encodes the final enzyme in the heme synthetic pathway. Read More

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http://dx.doi.org/10.2147/TACG.S122030DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5161401PMC
December 2016
16 Reads

Analysis of binary responses with outcome-specific misclassification probability in genome-wide association studies.

Appl Clin Genet 2016 30;9:169-177. Epub 2016 Nov 30.

Institute of Bioinformatics, The University of Georgia, Athens, GA; Department of Poultry Science, College of Agricultural and Environmental Sciences, University of Georgia, Athens, GA, USA.

Errors in the binary status of some response traits are frequent in human, animal, and plant applications. These error rates tend to differ between cases and controls because diagnostic and screening tests have different sensitivity and specificity. This increases the inaccuracies of classifying individuals into correct groups, giving rise to both false-positive and false-negative cases. Read More

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https://www.dovepress.com/analysis-of-binary-responses-with-
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http://dx.doi.org/10.2147/TACG.S122250DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5138056PMC
November 2016
5 Reads

Novel treatment options for lysosomal acid lipase deficiency: critical appraisal of sebelipase alfa.

Appl Clin Genet 2016 17;9:157-167. Epub 2016 Oct 17.

The Mark Holland Metabolic Unit, Salford Royal Hospital NHS Foundation Trust, Salford, UK.

Lysosomal acid lipase deficiency (LAL-D) is a rare disorder of cholesterol metabolism with an autosomal recessive mode of inheritance. The absence or deficiency of the LAL enzyme gives rise to pathological accumulation of cholesterol esters in various tissues. A severe LAL-D phenotype manifesting in infancy is associated with adrenal calcification and liver and gastrointestinal involvement with characteristic early mortality. Read More

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http://dx.doi.org/10.2147/TACG.S86760DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5074735PMC
October 2016
9 Reads

The genetics of uveal melanoma: current insights.

Appl Clin Genet 2016 6;9:147-55. Epub 2016 Sep 6.

Department of Oncology and Pathology, Karolinska institutet.

Uveal melanoma (UM) is the most common malignant eye tumor in adults affecting ~7,000 individuals per year worldwide. UM is a rare subtype of melanoma with distinct clinical and molecular features as compared to other melanoma subtypes. UMs lack the most typical cutaneous melanoma-associated mutations (BRAF, NRAS, and NF1) and are instead characterized by a different set of genes with oncogenic or loss-of-function mutations. Read More

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http://dx.doi.org/10.2147/TACG.S69210DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5019476PMC
September 2016
6 Reads

Identification of a novel pathogenic OTOF variant causative of nonsyndromic hearing loss with high frequency in the Ashkenazi Jewish population.

Appl Clin Genet 2016 31;9:141-6. Epub 2016 Aug 31.

Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY, USA.

Mutations in the OTOF gene have previously been shown to cause nonsyndromic prelingual deafness (DFNB9, OMIM 601071) as well as auditory neuropathy/dys-synchrony. In this study, the OTOF NM_194248.2 c. Read More

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http://dx.doi.org/10.2147/TACG.S113828DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5012844PMC
September 2016
11 Reads

Examining genotypic variation in autism spectrum disorder and its relationship to parental age and phenotype.

Appl Clin Genet 2016 28;9:121-9. Epub 2016 Jul 28.

Research Department, The Institute of Chronic Illnesses, Inc; Research Department, CoMeD, Inc, Silver Spring, MD.

Background: Previous studies on genetic testing of chromosomal abnormalities in individuals diagnosed with autism spectrum disorder (ASD) found that ~80% have negative genetic test results (NGTRs) and ~20% have positive genetic test results (PGTRs), of which ~7% were probable de novo mutations (PDNMs). Research suggests that parental age is a risk factor for an ASD diagnosis. This study examined genotypic variation in ASD and its relationship to parental age and phenotype. Read More

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https://www.dovepress.com/examining-genotypic-variation-in-a
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http://dx.doi.org/10.2147/TACG.S112712DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4968978PMC
August 2016
6 Reads

ROCK2 and MYLK variants and high-altitude pulmonary edema.

Appl Clin Genet 2016 2;9:137-9. Epub 2016 Aug 2.

Department of Physiology, Armed Forces Medical College, Pune, Maharashtra, India.

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http://dx.doi.org/10.2147/TACG.S113924DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4977031PMC
August 2016
4 Reads

The association between vitamin D receptor gene polymorphisms (TaqI and FokI), Type 2 diabetes, and micro-/macrovascular complications in postmenopausal women.

Appl Clin Genet 2016 1;9:131-6. Epub 2016 Aug 1.

Division of Endocrinology and Diabetes, Agamenon Magalhães Hospital.

Introduction: Since there is evidence of the action of vitamin D as a modulator of insulin release and atherosclerosis, it may well be that the vitamin D receptor polymorphisms are associated with diabetes and its chronic complications.

Aims: To examine the associations between vitamin D receptor polymorphisms (FokI and TaqI) and Type 2 diabetes (T2DM) and its associated chronic complications in postmenopausal women.

Methods: This cross-sectional study analyzed 100 postmenopausal women with T2DM (mean age 65. Read More

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https://www.dovepress.com/the-association-between-vitamin-d-
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http://dx.doi.org/10.2147/TACG.S101410DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4975152PMC
August 2016
17 Reads

Animal models of GM2 gangliosidosis: utility and limitations.

Appl Clin Genet 2016 20;9:111-20. Epub 2016 Jul 20.

Scott-Ritchey Research Center; Department of Anatomy, Physiology and Pharmacology, Auburn University College of Veterinary Medicine, Auburn, AL, USA.

GM2 gangliosidosis, a subset of lysosomal storage disorders, is caused by a deficiency of the glycohydrolase, β-N-acetylhexosaminidase, and includes the closely related Tay-Sachs and Sandhoff diseases. The enzyme deficiency prevents the normal, stepwise degradation of ganglioside, which accumulates unchecked within the cellular lysosome, particularly in neurons. As a result, individuals with GM2 gangliosidosis experience progressive neurological diseases including motor deficits, progressive weakness and hypotonia, decreased responsiveness, vision deterioration, and seizures. Read More

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https://www.dovepress.com/animal-models-of-gm2-gangliosidosi
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http://dx.doi.org/10.2147/TACG.S85354DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4959762PMC
August 2016
7 Reads