207 results match your criteria Case reports in genetics[Journal]


Late Onset Ornithine Transcarbamylase Deficiency Triggered by an Acute Increase in Protein Intake: A Review of 10 Cases Reported in the Literature.

Case Rep Genet 2020 25;2020:7024735. Epub 2020 Apr 25.

Department of Neurology, George Washington University School of Medicine and Health Sciences, Children's National Medical Center, Washington, DC, USA.

While the urea cycle disorders (UCDs) classically present in the neonatal stage, they have become increasingly recognized as a rare cause of unexplained hyperammonemic encephalopathy in adults. Many metabolic triggers for late-onset UCDs have been described in the literature including excessive protein intake. In this case series, ten such documented cases are reviewed with analysis of patient demographic, protein load, treatment course, and patient outcome. Read More

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http://dx.doi.org/10.1155/2020/7024735DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7197010PMC

Chromosome 16p13.3 Contiguous Gene Deletion Syndrome including the , , , and Genes Presenting as a Relatively Mild Rubinstein-Taybi Syndrome Phenotype: A Case Report of a Saudi Boy.

Case Rep Genet 2020 9;2020:6143050. Epub 2020 Jan 9.

Prince Mohammed Bin Abdulaziz Hospital, Riyadh, Saudi Arabia.

The classic Rubinstein-Taybi syndrome Type 1 (RSTS1, OMIM 180849) is caused by heterozygous mutations or deletions of the gene. Herein, we describe the case of a Saudi boy with chromosome 16p13.3 contiguous gene deletion syndrome (OMIM 610543) including the , , , and genes, but presenting with a relatively mild RSTS1 syndrome phenotype. Read More

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http://dx.doi.org/10.1155/2020/6143050DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7064822PMC
January 2020

A Tanzanian Boy with Molecularly Confirmed X-Linked Adrenoleukodystrophy.

Case Rep Genet 2019 31;2019:6148425. Epub 2019 Dec 31.

Department of Human Genetics, Radboud University Medical Center, Geert Grooteplein Zuid 10, 6525 GA Nijmegen, Netherlands.

Adrenoleukodystrophy (ALD) is an X-linked peroxisomal disorder with classical features, which can be also recognised in a low resource setting. It had been described in various populations across the globe, but very few cases have been reported from Africa. In a boy with features of a progressive central nervous system condition and adrenal failure, gene screening was performed based on a clinical history and basic radiological features which were compatible with ALD. Read More

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http://dx.doi.org/10.1155/2019/6148425DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7011349PMC
December 2019

Candidate Genes Associated with Delayed Neuropsychomotor Development and Seizures in a Patient with Ring Chromosome 20.

Case Rep Genet 2020 21;2020:5957415. Epub 2020 Jan 21.

Genetics Department, Post-Graduate Program in Genetics and Molecular Biology, Universidade Federal do Rio Grande do Sul (UFRGS), Porto Alegre, RS, Brazil.

Ring chromosome 20 (r20) is characterized by intellectual impairment, behavioral disorders, and refractory epilepsy. We report a patient presenting nonmosaic ring chromosome 20 followed by duplication and deletion in 20q13.33 with seizures, delayed neuropsychomotor development and language, mild hypotonia, low weight gain, and cognitive deficit. Read More

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http://dx.doi.org/10.1155/2020/5957415DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6995492PMC
January 2020

Characterization of a Pathogenic Variant in the ABCD1 Gene Through Protein Molecular Modeling.

Case Rep Genet 2020 25;2020:3256539. Epub 2020 Jan 25.

Department of Clinical Genomics, Mayo Clinic, Jacksonville, FL 32224, USA.

Background: The ATP-binding cassette, subfamily D, member 1 (ABCD1) protein is a peroxisomal half-transporter that allows for very long chain fatty acid (VLCFA) degradation. Pathogenic variants of cause VLCFAs to build up in various tissues and bodily fluids, resulting in a disorder called X-linked adrenoleukodystrophy (X-ALD). This disorder is most commonly marked by adrenocortical insufficiency and high VLCFA concentration, and has varying levels of neurological involvement depending on phenotype. Read More

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http://dx.doi.org/10.1155/2020/3256539DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7003284PMC
January 2020

Towards New Approaches to Evaluate Dynamic Mosaicism in Ring Chromosome 13 Syndrome.

Case Rep Genet 2019 28;2019:7250838. Epub 2019 Dec 28.

Medical Genetics Service, Hospital de Clínicas de Porto Alegre, Porto Alegre, RS, Brazil.

Individuals with ring chromosome 13 may show characteristics observed in a deletion syndrome and could present a set of dismorphies along with intellectual disability, according to chromosomal segments involved in the genetic imbalance. Nevertheless, ring anomalies likewise is called "dynamic mosaicism", phenomena triggered by the inner instability concerning the ring structure, thus leading to the establishment of different cell clones with secondary aberrations. Phenotypic features, such as growth failure and other anomalies in patients with this condition have been associated with an inherent ring chromosome mitotic instability, while recent studies offer evidence on a role played by the differential loss of genes implicated in development. Read More

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http://dx.doi.org/10.1155/2019/7250838DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6949681PMC
December 2019

Familial Russell-Silver Syndrome like Phenotype in the PCNA Domain of the Gene, a Further Case.

Case Rep Genet 2019 22;2019:1398250. Epub 2019 Dec 22.

Birmingham Women's and Children's Hospital NHS Trust and Birmingham Health Partners, Birmingham, UK.

We present two half siblings with significant short stature who proved a diagnostic challenge for several years. Radiological findings included subtle epiphyseal changes. The diagnosis was made through whole genome sequencing via the 100,000 genome project. Read More

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http://dx.doi.org/10.1155/2019/1398250DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6959155PMC
December 2019

Two Cases of Oculofaciocardiodental (OFCD) Syndrome due to X-Linked BCOR Mutations Presenting with Infantile Hemangiomas: Phenotypic Overlap with PHACE Syndrome.

Case Rep Genet 2019 28;2019:9382640. Epub 2019 Dec 28.

Vanderbilt Eye Institute, Vanderbilt University Medical Center, Nashville, TN 37232, USA.

Background: Oculofaciocardiodental (OFCD) syndrome is due to mutations in BCOR (BCL-6 corepressor). OFCD has phenotypic overlaps with PHACE syndrome (Posterior fossa anomalies, Hemangioma, Arterial anomalies, Cardiac defects, Eye anomalies). Infantile hemangiomas are a key diagnostic criterion for PHACE, but not for OFCD. Read More

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http://dx.doi.org/10.1155/2019/9382640DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6949664PMC
December 2019

Corrigendum to "Chromosome 3p Inverted Duplication with Terminal Deletion: Second Postnatal Case Report with Additional Clinical Features".

Case Rep Genet 2019;2019:4361630. Epub 2019 Nov 24.

Molecular Pathology Section, Pathology and Laboratory Medicine Institute, Cleveland Clinic, Cleveland, OH, USA.

[This corrects the article DOI: 10.1155/2019/5384295.]. Read More

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http://dx.doi.org/10.1155/2019/4361630DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6906839PMC
November 2019

Parallel Multi-Gene Panel Testing for Diagnosis of Idiopathic Hypogonadotropic Hypogonadism/Kallmann Syndrome.

Case Rep Genet 2019 27;2019:4218514. Epub 2019 Oct 27.

Department of Endocrinology, Diabetes & Metabolism, Christian Medical College, 632 004 Vellore, India.

Kallmann syndrome (KS)/Idiopathic hypogonadotropic hypogonadism (IHH) is characterized by hypogonadotropic hypogonadism and anosmia or hyposmia due to the abnormal migration of olfactory and gonadotropin releasing hormone producing neurons. Multiple genes have been implicated in KS/IHH. Sequential testing of these genes utilising Sanger sequencing is time consuming and not cost effective. Read More

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http://dx.doi.org/10.1155/2019/4218514DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6855064PMC
October 2019

Case of Inherited Partial AZFa Deletion without Impact on Male Fertility.

Case Rep Genet 2019 31;2019:3802613. Epub 2019 Oct 31.

Riga Stradins University, Latvia.

Male factor infertility accounts for 40-50% of all infertility cases. Deletions of one or more AZF region parts in chromosome Y are one of the most common genetic causes of male infertility. Usually full or partial AZF deletions, including genes involved in spermatogenesis, are associated with spermatogenic failure. Read More

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http://dx.doi.org/10.1155/2019/3802613DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6874946PMC
October 2019

Two Novel Variants in the Gene Associated with Variable Phenotypes.

Case Rep Genet 2019 6;2019:2687595. Epub 2019 Nov 6.

Human Genetics Unit, Faculty of Medicine, University of Colombo, Sri Lanka.

The X-linked alpha-thalassemia mental retardation (ATR-X) syndrome is a rare genetic condition caused by mutations in the X-encoded gene . Here we describe two unrelated patients of Sri Lankan origin with novel missense variants in the gene: c.839C>T|p. Read More

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http://dx.doi.org/10.1155/2019/2687595DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6875291PMC
November 2019

Resolving a Multi-Generational Neuromuscular Mystery in a Family Presenting with a Variable Scapuloperoneal Syndrome in a c.464G>A, p.Arg155His Mutation.

Case Rep Genet 2019 9;2019:2403024. Epub 2019 Oct 9.

AdventHealth Orlando, Neuromuscular Division, 1573 West Fairbanks, Winter Park, FL 32789, USA.

Valosin containing protein (VCP) mutations have been reported to present with a high degree of variability and can be present in patients even if they may have an initial normal work up. A 55-year-old woman was labeled as "normal" and "pain medication seeking" after an unrevealing work up of clinical, laboratory, electrodiagnostic, radiographic, pathologic, and genetic testing. She continued to present with chronic neck pain, and had variable features of scapuloperoneal atrophy, which was also seen in her family. Read More

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http://dx.doi.org/10.1155/2019/2403024DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6803746PMC
October 2019

Identifying a Novel DPYD Polymorphism Associated with Severe Toxicity to 5-FU Chemotherapy in a Saudi Patient.

Case Rep Genet 2019 21;2019:5150725. Epub 2019 Aug 21.

Department of Internal Medicine, King Abdulaziz University, Jeddah, Saudi Arabia.

Dihydropyrimidine dehydrogenase (DPD) is the major enzyme in the catabolism of 5-Fluorouracil (5-FU) and its prodrug capecitabine. We report a 65-year-old female with rectal adenocarcinoma who experienced severe toxicities secondary to standard dose 5-FU based chemotherapy. She was found to be heterozygous for rs371313778, c. Read More

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https://www.hindawi.com/journals/crig/2019/5150725/
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http://dx.doi.org/10.1155/2019/5150725DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6720358PMC
August 2019
4 Reads

Novel Frameshift Variant Leading to Meningioma in Three Generations in a Family with Gorlin Syndrome.

Case Rep Genet 2019 28;2019:9650184. Epub 2019 Jul 28.

Department of Clinical Genetics, Rigshospitalet, Copenhagen University Hospital, Copenhagen, Denmark.

Gorlin syndrome is mainly caused by pathogenic germline variants in the tumour suppressor genes and , both regulatory genes in the hedgehog pathway. However, the phenotypes of patients with and pathogenic variants seem to differ. We present a family with a frameshift variant in the gene c. Read More

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http://dx.doi.org/10.1155/2019/9650184DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6702821PMC
July 2019
2 Reads

Chromosome 3p Inverted Duplication with Terminal Deletion: Second Postnatal Case Report with Additional Clinical Features.

Case Rep Genet 2019 25;2019:5384295. Epub 2019 Jul 25.

Molecular Pathology Section, Pathology and Laboratory Medicine Institute, USA.

Distal deletions and duplications of 3p are individually well-characterized chromosome abnormalities. Here, we report an inverted duplication of 3p with an adjacent terminal 3p deletion in a 17-month-old girl who had prenatal intrauterine growth restriction and cardiac defects. Other findings included hemangiomas, neutropenia, umbilical hernia, hypotonia, gross motor delay, microcephaly, and ptosis. Read More

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http://dx.doi.org/10.1155/2019/5384295DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6683815PMC
July 2019
1 Read

A Start Codon Variant in Underlies Symphalangism and Ossicular Chain Malformations Affecting Both the Incus and the Stapes.

Case Rep Genet 2019 22;2019:2836263. Epub 2019 Jul 22.

Center for Statistical Genetics, Department of Neurology, Gertrude H. Sergievsky Center, Columbia University Medical Center, New York, NY, USA.

We performed exome sequencing to evaluate the underlying molecular cause of a patient with bilateral conductive hearing loss due to multiple ossicular abnormalities as well as symphalangism of the fifth digits. This leads to the identification of a novel heterozygous start codon variant in the gene (c.2T>C:p. Read More

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http://dx.doi.org/10.1155/2019/2836263DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6679842PMC
July 2019
2 Reads

Increasing Evidence for the Association of Breast Implant-Associated Anaplastic Large Cell Lymphoma and Li Fraumeni Syndrome.

Case Rep Genet 2019 16;2019:5647940. Epub 2019 Jul 16.

Department of Breast and Endocrine Surgery, St James's University Hospital, Leeds, LS9 7TF, UK.

We report a case of breast implant-associated anaplastic large cell lymphoma (BIA-ALCL) occurring in a 53-year-old female with Li Fraumeni syndrome (LFS) with a prior history of breast cancer. We present the clinical features, investigation, and management of this patient and potential mechanisms that could explain the increasing association of BIA-ALCL and LFS. Read More

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http://dx.doi.org/10.1155/2019/5647940DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6662482PMC

Niemann-Pick Disease: An Underdiagnosed Lysosomal Storage Disorder.

Case Rep Genet 2019 21;2019:3108093. Epub 2019 Apr 21.

Department of Obstetrics and Gynecology, PGIMER, Chandigarh, India.

Lysosomal storage disorders (LSDs) collectively constitute a significant public health burden in developing countries. Commoner LSDs include Gaucher, Fabry, and Niemann-Pick disease (NPD), but many cases remain undiagnosed. With the high incidence of consanguineous marriages, South East Asian countries are expected to have high prevalence of these LSDs. Read More

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http://dx.doi.org/10.1155/2019/3108093DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6500671PMC
April 2019
21 Reads

First Report of Diabetes Phenotype due to a Loss-of-Function Mutation Previously Known to Cause Congenital Hyperinsulinism.

Case Rep Genet 2019 11;2019:3654618. Epub 2019 Apr 11.

Division of Endocrinology and Metabolism and Diabetes Center, First Department of Internal Medicine, Medical School, Aristotle University of Thessaloniki, AHEPA University Hospital, Thessaloniki, Greece.

Monogenic Diabetes is relatively rare, representing only 1-2% of total diabetes cases; nevertheless, it is often misdiagnosed primarily as type 1 diabetes, leading to unnecessary insulin therapy and delayed recognition of affected family members. In the present article, we describe a case of a young, male patient who presented with hyperglycemia in the absence of ketosis and following genetic testing; he proved to harbor the loss-of-function p.Arg1353His (c. Read More

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http://dx.doi.org/10.1155/2019/3654618DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6487141PMC
April 2019
1 Read

Ocular Manifestations of the -Related Syndrome.

Case Rep Genet 2019 8;2019:8492965. Epub 2019 Apr 8.

Department of Ophthalmology, Virginia Commonwealth University School of Medicine, Richmond, VA, USA.

The -related syndrome is a rare X-linked neurodevelopmental condition that was first described in 2011. The disorder is caused by pathogenic variants in the gene located on chromosome X at position Xq28. Clinical features typically include severe psychomotor developmental delay, cardiac disease, dysmorphic features, postnatal growth failure, and hypotonia, although there is significant variability in the severity of the phenotype among affected individuals. Read More

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http://dx.doi.org/10.1155/2019/8492965DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6476065PMC
April 2019
2 Reads

SHOX Duplication and Tall Stature in a Patient with Xq Deletion and Vascular Disease.

Case Rep Genet 2019 8;2019:2691820. Epub 2019 Apr 8.

Pathophysiology Area, Pathology Department, School of Medicine, National University of Cuyo, Mendoza, Argentina.

The anomalies of X chromosome are classified as numerical or structural. Concomitant structural anomalies in this chromosome that associate partial loss of its long arm with duplications in its short arm are uncommon. Only a few cases have been published and in most of them the reported patients present ovarian dysfunction, tall stature, and overdosage of the SHOX gene with locus Xp22. Read More

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http://dx.doi.org/10.1155/2019/2691820DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6476016PMC
April 2019
1 Read

Pallister-Hall Syndrome Presenting in Adolescence.

Case Rep Genet 2019 18;2019:6845836. Epub 2019 Mar 18.

Division of Pediatric Endocrinology, Rutgers-Robert Wood Johnson Medical School, 89 French Street 2nd Floor, New Brunswick, NJ 08901, USA.

Pallister-Hall syndrome (PHS) is an extremely rare syndrome of unknown prevalence with autosomal dominant inheritance due to gene mutations classically characterized by the presence of a hypothalamic hamartoma and polydactyly. Additional diagnostic criteria include bifid epiglottis, imperforate anus, small nails, hypopituitarism, growth hormone deficiency, and genital hypoplasia. It is typically diagnosed in infancy and early childhood, presenting with seizures and/or precocious puberty due to the hypothalamic hamartoma, and with limb anomalies due to central polydactyly. Read More

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https://www.hindawi.com/journals/crig/2019/6845836/
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http://dx.doi.org/10.1155/2019/6845836DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6442444PMC
March 2019
22 Reads

Identification and Mapping of a 2,009-bp DNA Deletion in of a Hereditary Angioedema Patient.

Case Rep Genet 2019 24;2019:7052062. Epub 2019 Feb 24.

Division of Clinical Immunology, Department of Pathology, Queen Mary Hospital, Hong Kong.

We report a heterozygous, 2,009 base pairs (bps) genomic DNA deletion within the gene that has not previously been reported in a case of type I hereditary angioedema (HAE). The patient is a 28-year-old Han Chinese female living in Hong Kong who has suffered from recurrent angioedema since adolescence, with increasing attack frequency as she entered adulthood; in the past, episodes occurred annually, but now occur every two to three months. The affected areas are not itchy and include common sites such as the left and right forearms, but without throat involvement. Read More

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https://www.hindawi.com/journals/crig/2019/7052062/
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http://dx.doi.org/10.1155/2019/7052062DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6409050PMC
February 2019
13 Reads

Werner's Syndrome: Understanding the Phenotype of Premature Aging-First Case Described in Colombia.

Case Rep Genet 2019 12;2019:8538325. Epub 2019 Feb 12.

Human Genetics Institute, School of Medicine, Pontifical Xavierian University, Bogotá, Colombia.

Werner's syndrome (WS) is an autosomal recessive genetic disease, which is mainly characterized by scleroderma-like skin changes, juvenile cataracts, short stature, and signs of premature aging. We report a case of a 48-year-old male patient, who presents with cardinal signs of WS including high-pitched voice, sclerotic skin lesions mainly on feet, premature greying of scalp hair, bilateral cataracts, and "bird-like" facial appearance. In addition, the patient presents other clinical characteristics observed in patients with WS such as short stature, type 2 diabetes mellitus, hypogonadism, parental consanguinity, and a history of a sibling with similar clinical characteristics. Read More

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http://dx.doi.org/10.1155/2019/8538325DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6390251PMC
February 2019
20 Reads

8q22.2q22.3 Microdeletion Syndrome Associated with Hearing Loss and Intractable Epilepsy.

Case Rep Genet 2019 10;2019:7608348. Epub 2019 Jan 10.

Instituto de Genética Humana, Facultad de Medicina, Pontificia Universidad Javeriana, Colombia.

8q22.2q22.3 microdeletion syndrome has been described in only seven patients. Read More

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http://dx.doi.org/10.1155/2019/7608348DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6348808PMC
January 2019
1 Read

A Homozygous Mutation in a Japanese Patient with Catecholaminergic Polymorphic Ventricular Tachycardia.

Case Rep Genet 2019 8;2019:9056596. Epub 2019 Jan 8.

Department of Cardiology, Keio University School of Medicine, Tokyo, Japan.

A 62-year-old female had suffered from recurrent syncopal episodes triggered by physical and emotional stress since childhood. She had no family history of sudden death. An intensive examination could not detect any structural disease, and exercise stress testing provoked polymorphic ventricular ectopy followed by polymorphic ventricular tachycardia accompanied with syncope leading to a diagnosis of catecholaminergic polymorphic ventricular tachycardia (CPVT). Read More

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https://www.hindawi.com/journals/crig/2019/9056596/
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http://dx.doi.org/10.1155/2019/9056596DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6341267PMC
January 2019
28 Reads

T118M Variant of PMP22 Gene Presents with Painful Peripheral Neuropathy and Varying Charcot-Marie-Tooth Features: A Case Series and Review of the Literature.

Case Rep Genet 2018 25;2018:2618071. Epub 2018 Dec 25.

University of Florida, Department of Neurology, USA.

The clinical effect of T118M variant of the PMP22 gene has been controversial. Several studies have suggested that it may be autosomal recessive, partial loss of function, or a benign variant. Here we report three cases in further support that the T118M variant of the PMP22 gene is a partial loss of function variant. Read More

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http://dx.doi.org/10.1155/2018/2618071DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6323496PMC
December 2018
2 Reads

Exome Sequencing: Mutilating Sensory Neuropathy with Spastic Paraplegia due to a Mutation in FAM134B Gene.

Case Rep Genet 2018 12;2018:9468049. Epub 2018 Dec 12.

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

Hereditary sensory and autonomic neuropathies (HSANs) are a clinically and genetically heterogeneous group of disorders involving various sensory and autonomic dysfunctions. The most common symptoms of HSANs include loss of sensations of pain and temperature that frequently lead to chronic ulcerations in the feet and hands of the patient. In this case study, we present the clinical features and genetic characteristics of two affected individuals from two unrelated Saudi families presenting mutilating sensory loss and spastic paraplegia. Read More

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http://dx.doi.org/10.1155/2018/9468049DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6311306PMC
December 2018
14 Reads

Genetic Analysis of Undiagnosed Juvenile GM1-Gangliosidosis by Microarray and Exome Sequencing.

Case Rep Genet 2018 15;2018:8635698. Epub 2018 Nov 15.

Genetics Center of the Cheikh Zayed Foundation, Abulcasis International University of Health Sciences, Rabat, Morocco.

GM1 gangliosidosis is an autosomal recessive lysosomal storage disorder due to mutations in the lysosomal acid 3-galactosidase gene, . It is usually classified into three forms, infantile, juvenile, or adult, based on age at onset and severity of central nervous system involvement. Because of their broad clinical spectrum and their similarity to many other aetiologies, including inherited neurodegenerative and metabolic diseases, it is often difficult to diagnose such diseases. Read More

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http://dx.doi.org/10.1155/2018/8635698DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6276426PMC
November 2018
2 Reads

Multifactorial Origin of Exertional Rhabdomyolysis, Recurrent Hematuria, and Episodic Pain in a Service Member with Sickle Cell Trait.

Case Rep Genet 2018 7;2018:6898546. Epub 2018 Nov 7.

Consortium for Health and Military Performance, Department of Military and Emergency Medicine, Hébert School of Medicine, Uniformed Services University, 4301 Jones Bridge Rd., Bethesda, MD 20184, USA.

Individuals with Sickle Cell Trait (SCT), generally considered a benign carrier state of hemoglobin S (HbAS), are thought to be at risk for exertional rhabdomyolysis and hematuria, conditions that can also be caused by various other acquired and inherited factors. We report an SCT positive service member with an exertional rhabdomyolysis event, recurrent hematuria with transient proteinuria, and episodic burning pain in the lower extremities. Clinical and genetic studies revealed the multifactorial nature of his complex phenotype. Read More

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http://dx.doi.org/10.1155/2018/6898546DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6247656PMC
November 2018
9 Reads

Birt-Hogg-Dubé Syndrome Caused by a Novel Mutation in the FLCL Gene.

Case Rep Genet 2018 7;2018:4173704. Epub 2018 Nov 7.

Medical Corps, United States Navy, Pulmonary Department, Naval Medical Center, San Diego, 34800 Bob Wilson Drive, San Diego, CA 92134, USA.

Background: Birt-Hogg-Dubé syndrome is a genetic disorder characterized by skin fibrofolliculomas, cystic lung disease, and bilateral renal tumors. It has also been implicated in the formation of tumors in other organs, particularly thyroid and colon. This case presents a young female presenting with only cystic lung disease and kidney tumors, identified as having a never before identified heterozygous mutation in the folliculin () gene which is the likely cause of her syndrome. Read More

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http://dx.doi.org/10.1155/2018/4173704DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6247678PMC
November 2018
8 Reads

11p15.4 Microdeletion Associates with Hemihypertrophy.

Case Rep Genet 2018 30;2018:2746347. Epub 2018 Oct 30.

Department of Pediatrics, Rutgers Robert Wood Johnson Medical School, New Brunswick, NJ, USA.

We report a preterm female infant with intrauterine growth retardation, dysmorphic facies, missing rib, small hands and feet, and hemihypertrophy. The results of whole genome SNP microarray analysis showed approximately 77 Kb interstitial deletion of the short arm of chromosome 11 (11p15.4). Read More

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http://dx.doi.org/10.1155/2018/2746347DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6232786PMC
October 2018
4 Reads

Gastrointestinal Malignancy Presenting with a Virchow's Node in a Patient with Rothmund-Thomson Syndrome.

Case Rep Genet 2018 25;2018:7536832. Epub 2018 Oct 25.

Department of General Surgery, Northern Ontario School of Medicine, Sudbury, Ontario, Canada.

Rothmund-Thomson syndrome is a genetic disorder with characteristic findings in childhood as well as a predisposition to osteosarcoma, skin cancer, and hematological malignancy. We present the first reported case of duodenal malignancy in a patient with Rothmund-Thompson syndrome. An enlarged Virchow's node was noted and an advanced duodenal adenocarcinoma was diagnosed shortly thereafter. Read More

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http://dx.doi.org/10.1155/2018/7536832DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6222232PMC
October 2018
3 Reads

Exome Sequencing Identifies a Novel Sorting Nexin 14 Gene Mutation Causing Cerebellar Atrophy and Intellectual Disability.

Case Rep Genet 2018 24;2018:6737938. Epub 2018 Oct 24.

Molecular Genetics and Genomics Laboratory, Sultan Qaboos University Hospital, Muscat, Oman.

The autosomal recessive cerebellar ataxias (ARCA) affect both the central and the peripheral nervous systems. They are also characterized by a relatively high level of genetic heterogeneity with well over 40 genes already implicated. The present study aimed to identify the gene mutation responsible for a complex phenotype comprising cerebellar ataxia and intellectual disability segregating in an Omani consanguineous family. Read More

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https://www.hindawi.com/journals/crig/2018/6737938/
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http://dx.doi.org/10.1155/2018/6737938DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6220403PMC
October 2018
31 Reads

Congenital Glaucoma: a Novel Ocular Manifestation of Hajdu-Cheney Syndrome.

Case Rep Genet 2018 21;2018:2508345. Epub 2018 Oct 21.

Department of Paediatrics, The Wesley Hospital, Brisbane, Australia.

Hajdu-Cheney Syndrome (HSC) is a rare multisystem disease in which the phenotype involves acro-osteolysis, severe osteoporosis, short stature, wormian bones, facial dysmorphism, central neurological abnormalities, cardiovascular defects, and polycystic kidneys. We describe an infant with severe manifestations of HCS in whom congenital glaucoma was a significant early feature, which has not been reported to date. HCS cases reported to date have involved truncating mutations in exon 34 of upstream the PEST domain that lead to the development of a truncated and stable NOTCH2 protein which upregluates notch signaling. Read More

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https://www.hindawi.com/journals/crig/2018/2508345/
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http://dx.doi.org/10.1155/2018/2508345DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6215579PMC
October 2018
23 Reads

V144D Mutation of Can Present with Both Painful and Painless Phenotypes in Hereditary Sensory and Autonomic Neuropathies Type I.

Case Rep Genet 2018 18;2018:1898151. Epub 2018 Oct 18.

Department of Neurology, University of Florida, USA.

Hereditary sensory and autonomic neuropathy type I (HSAN I) is an autosomal dominant disease characterized by distal sensory loss, pain insensitivity, and autonomic disturbances. The major underlying causes of HSAN I are point mutations in the SPTLC1 gene. Patients with mutations in the SPTLC1 genes typically exhibit dense sensory loss and incidence of lancinating pain. Read More

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https://www.hindawi.com/journals/crig/2018/1898151/
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http://dx.doi.org/10.1155/2018/1898151DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6211148PMC
October 2018
28 Reads

A Rare Case of Heterozygous Gain of Function Thyrotropin Receptor Mutation Associated with Development of Thyroid Follicular Carcinoma.

Case Rep Genet 2018 17;2018:1381730. Epub 2018 Oct 17.

Department of Paediatric Endocrinology, Alder Hey Children's NHS Foundation Trust, Liverpool, UK.

Activating mutations in thyrotropin receptor () have been previously described in the context of nonautoimmune hyperthyroidism and thyroid adenomas. We describe, for the first time, a mutation in contributing to follicular thyroid carcinoma (FTC) in an adolescent. A 12-year-old girl presented with a right-sided neck swelling, increasing in size over the previous four weeks. Read More

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http://dx.doi.org/10.1155/2018/1381730DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6207865PMC
October 2018
24 Reads

Epileptic Encephalopathy and Cerebellar Atrophy Resulting from Compound Heterozygous Variants.

Case Rep Genet 2018 15;2018:6308283. Epub 2018 Oct 15.

Emory University Department of Human Genetics, Atlanta, GA 30322, USA.

encodes an auxiliary subunit of the voltage-dependent calcium channel. To date, there have only been two reports of individuals with early-infantile epileptic encephalopathy due to mutations. In both reports, patients were homozygous for the identified variants. Read More

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https://www.hindawi.com/journals/crig/2018/6308283/
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http://dx.doi.org/10.1155/2018/6308283DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6205307PMC
October 2018
28 Reads

Jumping Translocations of 1q in Myelodysplastic Syndrome and Acute Myeloid Leukemia: Report of Three Cases and Review of Literature.

Case Rep Genet 2018 9;2018:8296478. Epub 2018 Sep 9.

Clinical Cytogenetics Laboratory, Department of Genetics, Yale School of Medicine, New Haven, CT, USA.

Jumping translocations of 1q refer to the break-off of chromosome 1q as a donor fusing to two or more recipient chromosomes. We detected jumping translocations of 1q in three patients with initial diagnosis of myelodysplastic syndrome (MDS) and later progression to acute myeloid leukemia (AML). Review of literature found jumping translocations of 1q in 30 reported cases of MDS and AML. Read More

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http://dx.doi.org/10.1155/2018/8296478DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6151220PMC
September 2018
12 Reads

Chromosomal Abnormalities in Syndromic Orofacial Clefts: Report of Three Children.

Case Rep Genet 2018 9;2018:1928918. Epub 2018 Sep 9.

Nitte Meenakshi Institute of Craniofacial Surgery, Nitte (Deemed to be University), Karnataka, India.

This case series of three children reports clinical features and chromosomal abnormalities seen in a craniofacial clinic. All presented with orofacial cleft, developmental or intellectual disability, and dysmorphism. Emanuel syndrome or supernumerary der (22)t(11; 22), the prototype of complex small supernumerary marker disorders, was seen in one child. Read More

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http://dx.doi.org/10.1155/2018/1928918DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6151207PMC
September 2018
1 Read

Biallelic Mismatch Repair Deficiency in an Adolescent Female.

Case Rep Genet 2018 25;2018:8657823. Epub 2018 Jul 25.

University of California San Diego Department of Pediatrics, Division of Gastroenterology, USA.

Constitutional (Biallelic) Mismatch Repair Deficiency is a rare autosomal recessive disorder characterized by numerous cancers presenting as early as the first decade of life. Biallelic germline variants in one of four mismatch repair genes ( or ) cause this devastating disease. Given the rarity of the syndrome, often-asymptomatic tumors, and overlap with neurofibromatosis-1, diagnosis is frequently unrecognized or delayed. Read More

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https://www.hindawi.com/journals/crig/2018/8657823/
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http://dx.doi.org/10.1155/2018/8657823DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6092986PMC
July 2018
34 Reads

A Rare Case of Severe Congenital RYR1-Associated Myopathy.

Case Rep Genet 2018 1;2018:6184185. Epub 2018 Aug 1.

Medical Genetics Unit, Department of Biomedical Sciences and Human Oncology, "Aldo Moro" University of Bari, Policlinico Hospital, Piazza Giulio Cesare n. 11, 70124 Bari, Italy.

Congenital myopathies are a group of rare inherited diseases, defined by hypotonia and muscle weakness. We report clinical and genetic characteristics of a male preterm newborn, whose phenotype was characterized by severe hypotonia and hyporeactivity, serious respiratory distress syndrome that required mechanical ventilation, clubfoot, and other dysmorphic features. The diagnostic procedure was completed with the complete exome sequencing of the proband and of his parents and his sister, which showed new mutations in the ryanodine receptor gene (RYR1), which maps to chromosome 19q13. Read More

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https://www.hindawi.com/journals/crig/2018/6184185/
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http://dx.doi.org/10.1155/2018/6184185DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6092990PMC
August 2018
37 Reads

LAMA2 Congenital Muscle Dystrophy: A Novel Pathogenic Mutation in Bulgarian Patient.

Case Rep Genet 2018 25;2018:3028145. Epub 2018 Jul 25.

Laboratory of Genomic Diagnostics, Center of Molecular Medicine, Department of Medical Chemistry and Biochemistry, Medical University Sofia, Zdrave Str. 2, 1431 Sofia, Bulgaria.

Congenital muscle dystrophies (CMD) are genetically and clinically heterogeneous hereditary myopathies mainly with autosomal recessive type of inheritance. The most common form worldwide is considered to be merosin-deficient muscle dystrophy type 1A, called MDC1A (due to laminin-2 defects as a result of gene mutation), accounting for 30-40% of total cases of CMD. The exact molecular and clinical diagnoses, respectively, are a prerequisite for the most effective treatment; sometimes orphan drugs exist for some rare diseases. Read More

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http://dx.doi.org/10.1155/2018/3028145DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6083551PMC
July 2018
4 Reads

Novel Mutations in a Chinese Pedigree of Limb Girdle Muscular Dystrophy.

Case Rep Genet 2018 16;2018:8090797. Epub 2018 Jul 16.

Department of Pediatrics, Guizhou Provincial People's Hospital, Guiyang, Guizhou 559992, China.

Limb girdle muscular dystrophies (LGMDs) are a heterogeneous group of genetic myopathies leading primarily to proximal muscle weakness. It is caused by mutations at over 50 known genetic loci typically from mutations in genes encoding constituents of the sarcolemmal dystrophin complex or related functions. Herein we describe the case of two siblings with LGMD that were investigated using whole-exome sequencing followed by Sanger sequencing validation of a specific double-mutation in the gene. Read More

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http://dx.doi.org/10.1155/2018/8090797DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6076900PMC
July 2018
6 Reads

A Novel c.91dupG Gene Mutation Is Associated with Early Onset and Severe Alagille Syndrome.

Case Rep Genet 2018 25;2018:1369413. Epub 2018 Jun 25.

Department of Genetics, Hospital Infantil de México Federico Gómez, Mexico City, Mexico.

Alagille syndrome (MIM 118450) is an autosomal dominant disorder characterized by paucity of intrahepatic bile ducts, chronic cholestasis, pulmonary stenosis, butterfly-like vertebrae, posterior embryotoxon, and dysmorphic facial features. Most cases are caused by gene mutations. We report the case of a 2-year-old Mexican mestizo patient with Alagille syndrome, having exhibited jaundice and cholestatic syndrome as of three weeks of age. Read More

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http://dx.doi.org/10.1155/2018/1369413DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6036836PMC
June 2018
6 Reads

Ocular Manifestations of a Novel Proximal 19p13.3 Microdeletion.

Authors:
L Swan D Coman

Case Rep Genet 2018 30;2018:2492437. Epub 2018 Apr 30.

Department of Paediatrics, The Wesley Hospital, Brisbane, QLD, Australia.

Microdeletions at 19p13.3 are rarely reported in the medical literature with significant phenotypic variability. Among the reported cases, common clinical manifestations have included developmental delay, facial dysmorphism, and hypotonia. Read More

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http://dx.doi.org/10.1155/2018/2492437DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5952563PMC
April 2018
1 Read

Patient with Marfan Syndrome and a Novel Variant in FBN1 Presenting with Bilateral Popliteal Artery Aneurysm.

Case Rep Genet 2018 29;2018:6780494. Epub 2018 Mar 29.

Department of Clinical Genomics, Mayo Clinic, Jacksonville, FL, USA.

We present a 43-year-old man with aortic root dilation, mitral valve prolapse, and marfanoid appearance, who presented with acute onset left leg pain. He underwent a Doppler ultrasound that revealed left popliteal artery aneurysm with thrombus. CT angiogram showed bilateral popliteal artery aneurysms. Read More

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http://dx.doi.org/10.1155/2018/6780494DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5896231PMC
March 2018
4 Reads

Whole Exome Sequencing and Molecular Modeling of a Missense Variant in That Segregates with Disease in a Family with Chronic Urticaria and Angioedema.

Case Rep Genet 2018 22;2018:6968395. Epub 2018 Feb 22.

Center for Individualized Medicine, Mayo Clinic, Jacksonville, FL, USA.

Chronic urticaria is a common condition characterized by recurrent hives lasting several weeks or months and is usually idiopathic. Approximately half of the individuals with chronic urticaria will present with episodes of angioedema that can be severe and debilitating. In this report, we describe a 47-year-old Hispanic male who presented initially for an evaluation of chronic hives following hospitalization due to hive-induced anaphylaxis. Read More

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http://dx.doi.org/10.1155/2018/6968395DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5842716PMC
February 2018
16 Reads

Prenatal Identification and Molecular Characterization of Two Simultaneous De Novo Interstitial Duplications of Chromosomal Regions 7p22.1p21.1 and 15q24.1.

Case Rep Genet 2018 11;2018:1513534. Epub 2018 Feb 11.

Sanford School of Medicine, The University of South Dakota, Sioux Falls, SD, USA.

The occurrence of simultaneous de novo chromosomal aberrations is extremely rare. Here, we describe two, previously unreported, simultaneous de novo interstitial duplications of chromosomes 7p and 15q. Amniocentesis was completed for a healthy gravida 4 para 3 woman due to her advanced maternal age and concurrent ultrasound findings of partial vermian agenesis, choroid-plexus cysts, and hypoplastic nasal bone. Read More

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http://dx.doi.org/10.1155/2018/1513534DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5828557PMC
February 2018
12 Reads