Pain is neuroanatomically, psychologically and neurophysiologically complicated and its first function is protecting all alive creature body. This issue is so questionable and interesting that people who don’t feel pain how face this sensation and what problems threaten them. So many researchers by using 73 references, articles from electronical and library references have done a clinical...

Aicardi-Goutieres syndrome (AGS) is an inflammatory genetic disease inherited in an autosomal recessive manner. Common features of this disease are encephalopathy, splenomegaly and hepatomegaly, muscle stiffness, irritability, unstoppable crying, seizures and dilation in growth. According to previous studies, primary genes responsible for this Syndromes are as followed: TREX 1, RNASEH2A, RNASEH...

Backgrounds Hypotrichosis with juvenile macular dystrophy (HJMD) is a rare genetic disorder caused from mutations in the Cadherin 3 (CDH3) gene. Results In the present study, we reported an Iranian family with three affected members born to a consanguineous parent. Mutational analysis using whole exome sequencing has revealed a nucleotide change in CDH3 gene (NM_001793:exon8:c.830delG) which l...

Background: The secondary genetic changes other than the promyelocytic leukemia-retinoic acid receptor (PML-RARA) fusion gene may contribute to the acute promyelocytic leukemogenesis. Chromosomal alterations and mutation of FLT3 (FMS-like tyrosine kinase 3) tyrosine kinase receptor are the frequent genetic alterations in acute myeloid leukemia. However, the prognostic significance of FLT3 mutat...

Hereditary hearing loss (HHL) comprises half of the congenital deafness which arises from genetic mutations. Mutations in the TJP2 gene, encoding tight junction protein 2, are one of the gene alterations in HHL resulting in an autosomal dominant nonsyndromic form of the disease. An 11-year-old male patient with clinically approved congenital hearing loss was referred to our laboratory....

Objective(s) Despite the enormous heterogeneity of genetic hearing loss, most non-syndromic hearing losses are caused by mutations in the GJB2 gene. We aimed to characterize the mutation profiles of 100 Iranian deaf patients that were under 10 years old. Materials and Methods Patients were tested with direct sequencing of entire coding region of the GJB2 gene. Results Eight known mutations...

objective(s) despite the enormous heterogeneity of genetic hearing loss, most non-syndromic hearing losses are caused by mutations in the gjb2 gene. we aimed to characterize the mutation profiles of 100 iranian deaf patients that were under 10 years old. materials and methods patients were tested with direct sequencing of entire coding region of the gjb2 gene. results eight known mutations plus...

fibrodysplasia ossificans progressiva (fop, mim 135100) is a rare genetic disease that is often inherited sporadically in an autosomal dominant pattern. the disease manifests in early life with malformed great toes and, its episodic and progressive bone formation in skeletal muscle after trauma is led to extra-articular ankylosis. in this study, a 17 year-old affected girl born to a father with...

Whole Exome Sequencing (WES) has been increasingly utilized in genetic determinants of various inherited diseases. We identified a new variation in SERAC1 as the cause of 3-Methylglutaconic Aciduria (MEG), Deafness (D), Encephalopathy (E), and Leigh-like (L), MEGDEL syndrome using WES. We found an insertion, rs797045105 (chr6, 158571484, C>CCATG), in the SERAC1 gene with homozygous genotype in ...