A5020236776- Immunodeficiency and Autoimmune Disorders
- Lysosomal Storage Disorders Research
- Connexins and lens biology
- Immune Cell Function and Interaction
- RNA modifications and cancer
- Carbohydrate Chemistry and Synthesis
- Blood disorders and treatments
- Hereditary Neurological Disorders
- Pediatric health and respiratory diseases
- Hearing, Cochlea, Tinnitus, Genetics
- Genetic Syndromes and Imprinting
- Neonatal Respiratory Health Research
- Hedgehog Signaling Pathway Studies
- Amyotrophic Lateral Sclerosis Research
- Neurological diseases and metabolism
- Hyperglycemia and glycemic control in critically ill and hospitalized patients
- Renal and related cancers
- Epigenetics and DNA Methylation
- Inflammatory Myopathies and Dermatomyositis
- Congenital gastrointestinal and neural anomalies
- Genetic Neurodegenerative Diseases
- Ion Transport and Channel Regulation
- Cancer-related molecular mechanisms research
- Trypanosoma species research and implications
- Cholinesterase and Neurodegenerative Diseases
Semnan University of Medical Sciences
2023
Semnan University
2018-2022
Isfahan University of Medical Sciences
2014-2022
University College London
2019
Alzahra University
2014
Cornelia de Lange syndrome (CdLS) is a multisystem disorder with distinctive facial appearance, intellectual disability and growth failure as prominent features. Most individuals typical CdLS have novo heterozygous loss-of-function mutations in NIPBL mosaic representing significant proportion. Mutations other cohesin components, SMC1A, SMC3, HDAC8 RAD21 cause less CdLS.We screened 163 affected for coding region the known genes, 90 genomic rearrangements, 19 deep intronic variants 5 had...
Abstract Background Sirenomelia, also called mermaid syndrome, is a rare lethal multi-system congenital deformity with an incidence of one in 60,000–70,000 pregnancies. Sirenomelia mainly characterized by the fusion lower limbs and widely associated severe urogenital gastrointestinal malformations. The presence single umbilical artery derived from vitelline main anatomical feature distinguishing sirenomelia caudal regression syndrome. First-trimester diagnosis this disorder induced abortion...
Mucopolysaccharidosis type IIIC (MPSIIIC) is a severe, rare autosomal recessive disorder caused by variants in the heparan-α-glucosaminide N-acetyltransferase (HGSNAT) gene which result lysosomal accumulation of heparan sulfate. We analyzed clinical presentation, molecular defects and their haplotype context 78 (27 novel) MPSIIIC cases from 22 countries, largest group studied so far. describe for first time disease-causing patients Brazil, Algeria, Azerbaijan, Iran, extend spectrum within...
Warburg micro syndrome is an autosomal recessive disease where patients present with optic, neurologic and genital symptoms. Until now, four genes for syndrome, RAB3GAP1, RAB3GAP2, RAB18 TBC1D20, have been identified. Here, we report two novel homozygous RAB3GAP1 mutations (c.22G>T, p.Glu8* c.1353delA, p.Pro452Hisfs*5) in consanguineous families by whole-exome sequencing.
Heterozygous mutations in REEP1 (MIM #609139) encoding the receptor expression-enhancing protein 1 (REEP1) are a well-recognized and relatively frequent cause of autosomal dominant hereditary spastic paraplegia (HSP), SPG31.1 localizes mitochondria endoplasmic reticulum (ER) facilitates ER-mitochondria interactions.2 In addition to HSP phenotype, has been associated with an spinal type Charcot-Marie-Tooth disease 2 families.3 More recently, patient homozygous mutation much more severe...
Bardet-Biedl syndrome is a rare autosomal recessive form of syndromic obesity which characterized by retinal degeneration, obesity, polydactyly, cognitive impairment, and renal urogenital anomalies. In this study, we used whole-exome sequencing (WES) to investigate the underlying mutations in four Iranian children from consanguineous families with clinical diagnosis (BBS). three out children, identified one previously reported frameshifting variant BBS12 gene (c.265-266delTT, p.L89fs) two...
Background: Cystic fibrosis (CF) is the most common lethal genetic disorder of Fibrosis Trans-membrane Conductance (CFTR) Regulator gene mutations. We aimed to investigate mutations in CF patients and assess its possible relationship with clinical presentations. Materials Methods: This cross sectional study was conducted on 36 who were referred a tertiary pediatric hospital Isfahan, Iran. They evaluated for 34 CFTR by using reverse dot blot strip assay. Other parameters such as age...
Charcot-Marie-Tooth disease (CMT) is the most common hereditary neuropathy of peripheral nervous system with a wide range severity and age onset. CMT patients share similar phenotypes which make it often impossible to identify types based on clinical presentation electrophysiological studies alone. In recent years, novel genetic diagnostic approaches such as whole exome sequencing (WES) has provided ground for accurate diagnosis through identification disease-causing mutation(s). present...
Cohen syndrome is an autosomal recessive disorder with the primary symptoms of mental deficiency, progressive retinopathy, hypotonia, microcephaly, obesity midchildhood onset, intermittent neutropenia, and dysmorphic facial features. The has high phenotypic heterogeneity caused by loss-of-function mutations in VPS13B gene. Here, we introduce a novel homozygous nonsense mutation (c.8698G > T, p.E2900X) gene 11-year-old Iranian boy major syndrome. He also had mild anemia accompanied...
Abstract Background Limb‐girdle muscular dystrophy (LGMD) is a non‐syndromic caused by variations in the genes involved muscle structure, function and repair. The heterogeneity severity, progression, age of onset, causative makes next‐generation sequencing (NGS) necessary approach for proper diagnosis LGMD. Methods In this article, 26 Iranian patients with LGMD criteria were diagnosed disease variants encoding calpain3, dysferlin, sarcoglycans Laminin α‐2. Patients referred to hospital...
Abstract Purpose: Major histocompatibility complex class II (MHC-II) deficiency is a rare inborn error of immunity (IEI). Impaired antigen presentation to CD4+ T-cells results in combined immunodeficiency. Patients typically present with severe respiratory and gastrointestinal tract infections at early ages. Hematopoietic stem cell transplantation (HSCT) the only curative therapy. Methods: We describe clinical, immunologic, genetic features eighteen unrelated Iranian patients MHC-II...