36,596 results match your criteria patient homozygous


A novel homozygous mutation in ATP13A2 gene causing pure hereditary spastic paraplegia.

Parkinsonism Relat Disord 2021 Mar 30;86:58-60. Epub 2021 Mar 30.

Department of Neurology, The First Medical Centre, Chinese PLA General Hospital, Beijing, China. Electronic address:

SPG78 is a subtype of hereditary spastic paraplegia(HSP) caused by ATP13A2 gene mutations. SPG78 was reported as complicated HSP in several cases, but was never associated with pure HSP. Here we report the first Chinese patient carrying a novel homozygous nonsense mutation in ATP13A2 presenting with pure HSP. Read More

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Importance of NUDT15 c.415C>T phenotype in treatment of inflammatory bowel disease with azathioprine and occurrence of severe myelosuppression: A case report.

Int J Clin Pharmacol Ther 2021 Apr 16. Epub 2021 Apr 16.

Azathioprine is one of the main drugs in the treatment of inflammatory bowel disease (IBD). It has been widely used in the remission and maintenance treatment of IBD. Some patients may experience some degree of myelosuppression, but very few patients experience severe myelosuppression. Read More

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Pyruvate carboxylase deficiency type C as a differential diagnosis of diabetic ketoacidosis.

J Pediatr Endocrinol Metab 2021 Apr 15. Epub 2021 Apr 15.

Department of Pediatric Metabolism, Ankara University Faculty of Medicine, Ankara, Turkey.

Objectives: Type C pyruvate carboxylase (PC) deficiency is extremely rare, and has been described in only a few patients in literature to date. Herein, we present the case of a four-year-old patient admitted with diabetic ketoacidosis and diagnosed with type C PC deficiency based on clinical and biochemical findings.

Case Presentation: A Turkish girl was referred to the intensive care unit at the age of three-years with a three-day history of vomiting and abdominal pain. Read More

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Novel Treatment for Congenital Disorder of Glycosylation in a Patient with Novel Homozygote Mutation of PMM2: A Case Report and Review Literature.

Endocr Metab Immune Disord Drug Targets 2021 Apr 14. Epub 2021 Apr 14.

Research Center for Immunodeficiencies, Children's Medical Center, Tehran University of Medical Sciences, Tehran. Iran.

Background: In Congenital Disorder of Glycosylation (CDG) type Ia, homozygous mutations of the PMM2 gene cause phosphomannomutase 2 dysfunction.

Case Presentation: Herein, a 10-month-old girl is presented with severe hypotonia along with inappropriately normal mental status and normal facies. High 2-ketoglutaric acid was detected in her urine; therefore the diagnosis of 2-Ketoglutarate dehydrogenase complex (KDHC) deficiency was made for this patient. Read More

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Metabolic impact of pathogenic variants in the mitochondrial glutamyl-tRNA synthetase EARS2.

J Inherit Metab Dis 2021 Apr 14. Epub 2021 Apr 14.

Children's Medical Center Research Institute, The University of Texas Southwestern Medical Center, Dallas, TX, USA.

Glutamyl-tRNA synthetase 2 (encoded by EARS2) is a mitochondrial aminoacyl-tRNA synthetase required to translate the 13 subunits of the electron transport chain encoded by the mitochondrial DNA. Pathogenic EARS2 variants cause combined oxidative phosphorylation deficiency, subtype 12 (COXPD12), an autosomal recessive disorder involving lactic acidosis, intellectual disability and other features of mitochondrial compromise. Patients with EARS2 deficiency present with variable phenotypes ranging from neonatal lethality to a mitigated disease with clinical improvement in early childhood. Read More

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The c.3140-26A>G Variant of the CFTR Gene in Homozygous State Causes Mild Cystic Fibrosis - Overview of Longitudinal Clinical Data of the Patient Managed in our CF Center and Review of the Literature.

Acta Chim Slov 2020 Jun;67(2):666-673

There are over 70.000 patients with cystic fibrosis (CF) in the world and numerous sequence variations in the CFTR gene have been reported but the clinical significance of all of them is still not known. There are currently 195 patients with the c. Read More

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Progressive Ataxia and Neurologic Regression in -Associated Bare Lymphocyte Syndrome.

Neurol Genet 2021 Jun 9;7(3):e586. Epub 2021 Apr 9.

Center for Genetics and Inherited Diseases (E.A., N.A.M.A.), and Faculty of Applied Medical Sciences (N.A.M.A.), Taibah University, Almadinah Almunwarah; Department of Adults Neurology (M.O.), National Neuroscience Institute, King Fahad Medical City; Section of Medical Genetics (M.A.O.E.), Childrens Specialist Hospital, King Fahad Medical City; Department of Medical Imaging in King Abdulaziz Medical City (M.A.), King Saud Ibn Abdulaziz University for Health Sciences, King Abdullah International Medical Research Center; Pathology and Clinical Laboratory Medicine Administration (I.B.), King Fahad Medical City; Molecular Pathology (M.S.), Clinical Laboratory Medicine Administration, King Fahad Medical City, Riyadh, Saudi Arabia; Department of Laboratory Medicine (R.W.A.P.), Boston Childrens Hospital, MA; Section of Medical Genetics (A.A.), Childrens Specialist Hospital, King Fahad Medical City, Riyadh, Saudi Arabia.

Objective: To identify the genetic cause of a late-onset immunodeficiency and subacute progressive neurodegenerative disease affecting cognition, motor, visual, and cerebellar systems in a patient with a family history of 2 younger siblings with an early-onset immunodeficiency disease.

Methods: Physical examinations, immunologic, brain MRI, whole-exome sequencing, and segregation studies were used to identify the genetic and neuroimmunologic etiology of disease in this family.

Results: We identified a homozygous loss-of-function (LOF) mutation (c. Read More

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A Novel Cystic Fibrosis Gene Mutation C.4242+1G>C in an Omani Patient: A Case Report.

Oman Med J 2021 Mar 31;36(2):e243. Epub 2021 Mar 31.

Pediatric Department, Sohar Hospital, Sohar, Oman.

Cystic fibrosis (CF) is a genetic disease caused by a mutation in the cystic fibrosis transmembrane conductance regulator () gene that affects multisystems in the body, particularly the lungs and digestive system. We report a case of an Omani newborn who presented with meconium ileus and high suspicion of CF. Thus, full gene sequencing was performed, which revealed a homozygous unreported C. Read More

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Functional Analysis of SNPs ( and ) Associated with Schizophrenia.

Genet Res (Camb) 2021 31;2021:6698979. Epub 2021 Mar 31.

Department of Biological Sciences, Birla Institute of Technology and Science, Pilani - Hyderabad Campus, Hyderabad, India.

A recent study showed the association of minor alleles of (T allele) and (T allele) of with schizophrenia (SZ) and suggested their effects on splicing of the transcripts. We performed a replication study using 310 controls and 304 SZ patients and confirmed the association of the homozygous minor allele genotypes with SZ ( = 0.04 for and  = 0. Read More

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Non-Classical 21-Hydroxylase Deficiency: Analysis of a Mutant Gene in a Uyghur Family and Literature Review.

Pharmgenomics Pers Med 2021 7;14:409-416. Epub 2021 Apr 7.

People' s Hospital of Xinjiang Uygur Autonomous Region, Urumqi, 830001, People's Republic of China.

Objective: The gene mutation and clinical characteristics of a patient with non-classical 21-hydroxylase deficiency and his family were analyzed.

Methods: A patient was diagnosed with non-classical 21-hydroxylase deficiency in the Department of Endocrinology of People's Hospital of Xinjiang Uygur Autonomous Region in December 2016. The clinical data and related gene-sequencing results were analyzed. Read More

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Homozygous UBA5 Variant Leads to Hypomyelination with Thalamic Involvement and Axonal Neuropathy.

Neuropediatrics 2021 Apr 14. Epub 2021 Apr 14.

Department of Child Neurology, Amsterdam Leukodystrophy Center, Emma Children's Hospital, Amsterdam UMC, and Amsterdam Neuroscience, Vrije Universiteit, Amsterdam, The Netherlands.

The enzyme ubiquitin-like modifier activating enzyme 5 (UBA5) plays an important role in activating ubiquitin-fold modifier 1 (UFM1) and its associated cascade. is widely expressed and known to facilitate the post-translational modification of proteins. Variants in and are involved in neurodevelopmental disorders with early-onset epileptic encephalopathy as a frequently seen disease manifestation. Read More

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Histological and immunohistochemical characteristics and status studied by FISH in six incidentally detected cases of well-differentiated papillary mesothelioma of the peritoneum.

Indian J Pathol Microbiol 2021 Apr-Jun;64(2):277-281

Division of Pathology, Tohoku Medical and Pharmaceutical University, Sendai, Japan.

Well-differentiated papillary mesothelioma (WDPM) is an uncommon mesothelial neoplasm, which is generally regarded as benign or indolent in terms of its clinical behavior. However, details about WDPM have remained relatively unknown. Therefore, in this study, we examined six incidentally detected cases of WDPM of the peritoneum. Read More

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Molecular Genetics of Inherited Retinal Degenerations in Icelandic patients.

Clin Genet 2021 Apr 14. Epub 2021 Apr 14.

Department of Genetics and Molecular Medicine, Landspitali - National University Hospital of Iceland, Reykjavik, Iceland.

The study objective was to delineate the genetics of inherited retinal degenerations (IRDs) in Iceland, a small nation of 364.000 and a genetic isolate. Benefits include delineating novel pathogenic genetic variants and defining genetically homogenous patients as potential investigative molecular therapy candidates. Read More

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Characterization of novel and large fragment deletions in exon 1 of the IL10RA gene in Chinese children with very early onset inflammatory bowel diseases.

BMC Gastroenterol 2021 Apr 13;21(1):167. Epub 2021 Apr 13.

Department of Gastroenterology, Children's Hospital of Fudan University, 399 Wanyuan Road, Minhang District, Shanghai, 201102, China.

Background: Defects in interleukin 10 (IL10) and its receptors are particularly involved in very early onset inflammatory bowel disease (VEOIBD). However, large fragment deletions of IL10 receptor A (IL10RA) are rare.

Methods: VEOIBD patients with confirmed mutations in the IL10RA gene were enrolled from January 1, 2019 to June 30, 2020. Read More

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Association of cyclin-dependent kinase inhibitor 2B antisense RNA 1 gene expression and rs2383207 variant with breast cancer risk and survival.

Cell Mol Biol Lett 2021 Apr 13;26(1):14. Epub 2021 Apr 13.

Department of Medical Biochemistry, Faculty of Medicine, Taibah University, Medina, Saudi Arabia.

Background: The expression signature of deregulated long non-coding RNAs (lncRNAs) and related genetic variants is implicated in every stage of tumorigenesis, progression, and recurrence. This study aimed to explore the association of lncRNA cyclin-dependent kinase inhibitor 2B antisense RNA 1 (CDKN2B-AS1) gene expression and the rs2383207A>G intronic variant with breast cancer (BC) risk and prognosis and to verify the molecular role and networks of this lncRNA in BC by bioinformatics gene analysis.

Methods: Serum CDKN2B-AS1 relative expression and rs2383207 genotypes were determined in 214 unrelated women (104 primary BC and 110 controls) using real-time PCR. Read More

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A case of juvenile CLN1- challenge in diagnosis and epilepsy treatment.

Neurocase 2021 Apr 14:1-4. Epub 2021 Apr 14.

Neurology Department, Massachusetts General Hospital, Harvard Medical School, Boston, USA.

Classic onset of CLN1 disease is within the first year of life with developmental arrest, epilepsy and rapid progression. In an atypical variant of CLN1 disease onset is later in the juvenile epoch. Although epilepsy in the juvenile form of CLN1 often is less severe than in typical CLN1, treatment of seizures and status epilepticus may be challenging. Read More

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Pathogenesis of acephalic spermatozoa syndrome caused by SUN5 Variant.

Mol Hum Reprod 2021 Apr 12. Epub 2021 Apr 12.

Laboratory of Basic Medicine, Dongfang Hospital (900th Hospital of the Joint Logistics Team), Xiamen University, Fuzhou, 350025, China.

Acephalic spermatozoa syndrome (ASS) is a rare teratozoospermia that leads to male infertility. Previous work suggested a genetic origin. Variants of Sad1 and UNC84 domain containing 5 (SUN5) are the main genetic cause of ASS, however its pathogenesis remains unclear. Read More

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Whole exome sequencing analysis identifies novel Stargardt disease-related gene mutations in Chinese Stargardt disease and retinitis pigmentosa patients.

Eye (Lond) 2021 Apr 12. Epub 2021 Apr 12.

Joint Shantou International Eye Center of Shantou University and The Chinese University of Hong Kong, Shantou, Guangdong, China.

Objectives: To delineate the disease-causing mutations of the Stargardt disease-related genes in Chinese patients diagnosed with Stargardt disease or retinitis pigmentosa (RP) by whole exome sequencing analysis.

Methods: A total of 123 sporadic RP or Stargardt disease patients and 2 Stargardt disease families were recruited. All sporadic patients and the probands of the families were subjected to whole exome sequencing analysis. Read More

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Interferon-γ (+874 T/A) and interleukin-10 (-1082 G/A) genes polymorphisms are associated with active tuberculosis in the Algerian population of Oran's city.

Indian J Tuberc 2021 Apr 26;68(2):221-229. Epub 2020 Aug 26.

Immunology Department, La Rabta Hospital, Tunis, Tunisia; Laboratory of Immuno-Rheumatology (LR05 SP01), La Rabta Hospital, Tunis, Tunisia.

Background And Aims: Polymorphisms within genes encoding the cytokines involved in anti-tuberculosis immunity have been widely studied and sometimes associated with an increased risk of developing the active form of tuberculosis (TB). This study analyzes for the first time the impact of two polymorphisms, namely IFNG+874 T/A and IL10-1082 G/A, in the Algerian population where tuberculosis is moderately endemic.

Methods: This case-control study included 104 healthy controls and 141 active TB patients: 75 extrapulmonary (EPTB) and 66 pulmonary (PTB). Read More

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Lysosomal acid lipase gene single nucleotide polymorphism and pulmonary tuberculosis susceptibility.

Indian J Tuberc 2021 Apr 5;68(2):179-185. Epub 2020 Aug 5.

Department of Laboratory Medicine, The First Affiliated Hospital of China Medical University, Shenyang, 110001, Liaoning Province, China; Kairuki Hospital, Tanzania. Electronic address:

Background: The factors that predispose to pulmonary tuberculosis (PTB) are not fully understood, However. Gene polymorphisms have been associated with PTB development.

Objectives: In this study, we investigated the relationship between LIPA gene polymorphisms and a predisposition to pulmonary tuberculosis caused by Mycobacterium tuberculosis. Read More

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Frequency of mutations in PRKN, PINK1, and DJ1 in Patients With Early-Onset Parkinson Disease from neighboring countries in Central Europe.

Parkinsonism Relat Disord 2021 Apr 2;86:48-51. Epub 2021 Apr 2.

Department of Neurology, Mayo Clinic, Jacksonville, FL, USA. Electronic address:

Introduction: Approximately 10% of patients with Parkinson disease (PD) present with early-onset disease (EOPD), defined as diagnosis before 50 years of age. Genetic factors are known to contribute to EOPD, with most commonly observed mutations in PRKN, PINK1, and DJ1 genes. The aim of our study was to analyze the frequency of PRKN, PINK1, and DJ1 mutations in an EOPD series from 4 neighboring European countries: Czech Republic, Germany, Poland, and Ukraine. Read More

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Generation of pathogenic TPP1 mutations in human stem cells as a model for neuronal ceroid lipofuscinosis type 2 disease.

Stem Cell Res 2021 Apr 6;53:102323. Epub 2021 Apr 6.

Department of Molecular Biology, Cell Biology and Biochemistry, Brown University, Providence, Rhode Island 02912, USA; Center for Translational Neuroscience, Carney Institute for Brain Science and Brown Institute for Translational Science, Brown University, Providence, Rhode Island 02912, USA; Hassenfeld Child Health Innovation Institute, Brown University, Providence, Rhode Island 02912, USA. Electronic address:

Neuronal ceroid lipofuscinosis type 2 (CLN2 disease) is an autosomal recessive neurodegenerative disorder generally with onset at 2 to 4 years of age and characterized by seizures, loss of vision, progressive motor and mental decline, and premature death. CLN2 disease is caused by loss-of-function mutations in the tripeptidyl peptidase 1 (TPP1) gene leading to deficiency in TPP1 enzyme activity. Approximately 60% of patients have one of two pathogenic variants (c. Read More

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Meta-analysis of Association Studies of Selenoprotein Gene Polymorphism and Kashin-Beck Disease: an Updated Systematic Review.

Biol Trace Elem Res 2021 Apr 12. Epub 2021 Apr 12.

Department of Occupational and Environmental Health, School of Public Health, Zhengzhou University, Environment and Health Innovation Team, 100 Kexue Avenue, Zhengzhou, Henan, 450001, People's Republic of China.

To evaluate the association between selenoprotein gene polymorphisms and Kashin-Beck disease (KBD) susceptibility through a systematic review and updated meta-analysis. PubMed, Google Scholar, Cochrane library, and Chinese National Knowledge Infrastructure (CNKI) were electronically searched using the terms "selenoprotein" and "Kashin-Beck disease" or "KBD" with a search time from the establishment of the database to January 2021. The Newcastle-Ottawa Scale (NOS) was used for methodological quality evaluation of the included studies. Read More

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A Novel Homozygous TRNT1 Mutation in a Child With an Early Diagnosis of Common Variable Immunodeficiency Leading to Mild Hypogammaglobulinemia and Hemolytic Anemia.

J Pediatr Hematol Oncol 2021 Apr 9. Epub 2021 Apr 9.

Departments of Pediatrics Medical Genetics, Ege University Faculty of Medicine, Izmir, Turkey.

Although sideroblastic anemias (SAs) may be associated with different etiologies, deterioration of mitochondrial heme biosynthesis in bone marrow erythroid cells is a general abnormality. Congenital SA associated with immunodeficiency, periodic fever, and developmental delay is because of loss-of-function mutations in the TRNT1 gene. We report a patient with a novel homozygous mutation in the TRNT1 gene presenting with anemia with siderocytes, hypogammaglobulinemia, hepatosplenomegaly, and brittle hair but without periodic fever or developmental delay. Read More

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Complement factor D haplodeficiency is associated with a reduced complement activation speed and diminished bacterial killing.

Clin Transl Immunology 2021 3;10(4):e1256. Epub 2021 Apr 3.

Pediatric Infectious Diseases and Immunology Amalia Children's Hospital Nijmegen The Netherlands.

Objectives: Complete deficiency of alternative pathway (AP) complement factors, explained by homozygous mutations, is a well-known risk factor for invasive bacterial infections; however, this is less obvious for heterozygous mutations. We describe two siblings with a heterozygous NM_001928.3(CFD):c. Read More

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Clinical Variability of -Associated Early-Onset Parkinsonism.

Front Neurol 2021 25;12:648457. Epub 2021 Mar 25.

Sorbonne Université, Institut du Cerveau-Paris Brain Institute-ICM, INSERM, CNRS, Assistance Publique Hôpitaux de Paris, Hôpital Pitié-Salpêtrière, CIC Neurosciences, Paris, France.

Autosomal recessive early-onset parkinsonism is clinically and genetically heterogeneous. Mutations of three genes, , and cause pure phenotypes usually characterized by levodopa-responsive Parkinson's disease. By contrast, mutations of other genes, including , and , cause rarer, more severe diseases with a poor response to levodopa, generally with additional atypical features. Read More

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Association Between the CYP2C9 Genotype and Hypoglycemia Among Patients With Type 2 Diabetes Receiving Sulfonylurea Treatment: A Meta-analysis.

Clin Ther 2021 Apr 8. Epub 2021 Apr 8.

College of Pharmacy and Graduate School of Pharmaceutical Sciences, Ewha Womans University, Seoul, Republic of Korea. Electronic address:

Purpose: Two common variants, CYP2C9*2 (Arg144Cys, rs1799853) and CYP2C9*3 (Ile359Leu, rs1057910), are known to reduce the catalytic function of the CYP2C9 enzyme. Because impaired catalytic function is likely to affect sulfonylurea metabolism, it is predictable that CYP2C9 loss-of-function alleles may increase the risk of sulfonylurea-induced hypoglycemia. This systematic review and meta-analysis aimed to assess the association between CYP2C9 genotype and hypoglycemia among patients with type 2 diabetes mellitus (T2DM) receiving sulfonylurea. Read More

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Clinical significance of CDKN2A homozygous deletion in combination with methylated MGMT status for IDH-wildtype glioblastoma.

Cancer Med 2021 Apr 10. Epub 2021 Apr 10.

Department of Neurosurgery, Graduate School of Medical Sciences, Kyushu University, Fukuoka, Japan.

Objective: Accumulating evidence from recent molecular diagnostic studies has indicated the prognostic significance of various genetic markers for patients with glioblastoma (GBM). To evaluate the impact of such genetic markers on prognosis, we retrospectively analyzed the outcomes of patients with IDH-wildtype GBM in our institution. In addition, to assess the impact of bevacizumab (BEV) treatment, we compared overall survival (OS) between the pre- and post-BEV eras. Read More

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Differential Inhibition of LRRK2 in Parkinson's Disease Patient Blood by a G2019S Selective LRRK2 Inhibitor.

Mov Disord 2021 Feb 11. Epub 2021 Feb 11.

ESCAPE Bio, Inc., South San Francisco, California, USA.

Background: A common genetic mutation that causes Parkinson's disease (PD) is the G2019S LRRK2 mutation. A precision medicine approach that selectively blocks only excess kinase activity of the mutant allele could yield a safe and effective treatment for G2019S LRRK2 PD.

Objective: To determine the activity of a G2019S mutant selective leucine-rich repeat kinase 2 (LRRK2) kinase inhibitor as compared to a nonselective inhibitor in blood of subjects with genetic and idiopathic PD on two LRRK2 biomarkers, pSer935 LRRK2 and pThr73 Rab10. Read More

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February 2021

c.3G>A mutation in the gene that causes fatal infantile hypertonic myofibrillar myopathy in the Chinese population.

J Integr Neurosci 2021 Mar;20(1):143-151

Running Gene Inc.,100083 Beijing, P. R. China.

Infantile hypertonic myofibrillar myopathy is characterized by the rapid development of rigid muscles and respiratory insufficiency soon after birth, with very high mortality. It is extremely rare, and only a few cases having been reported until now. Here we report four Chinese infants with fatal neuromuscular disorders characterized by abdominal and trunk skeletal muscle stiffness and rapid respiratory insufficiency progression. Read More

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