congratulation to margaret chan familial and sporadic gjb2-related deafness in iran: review of gene mutations

Mutation analysis of familial GJB2-related deafness in Iranian Azeri Turkish patients.

AIMS Mutations in the GJB2 gene-encoding connexin 26 protein are the main cause for autosomal recessive nonsyndromic hearing loss worldwide. In this study, we assessed the contributions made by GJB2 and del(GJB6-D13S1830) mutations to the autosomal recessive nonsyndromic deafness genetic load in Iranian Azeri Turkish patients. RESULTS Probands from 209 different nuclear families were investig...

Study of six mutations in the gjb2 gene in Cuban patients with nonsyndromic sensorineural deafness

Deafness is a partial or total hearing loss that can appear at any ages and with different degrees of severity. About 50% of hearing disorders have a genetic origin, and among them, the nonsyndromic sensorineural deafness represents 70% of the cases. Out of these, the 80% correspond to autosomal recessive inheritance deafness. Autosomal recessive deafness has not been characterized enough at mo...

Molecular epidemiology of deafness in France reclassifies mutations as common polymorphisms in the GJB2 gene

MEFV Gene Profile in Northwest of Iran, Twelve Common MEFV Gene Mutations Analysis in 216 Patients with Familial Mediterranean Fever

Familial Mediterranean Fever (FMF) is a hereditary autoinflammatory disease with autosomal recessive inheritance pattern often seen around the Mediterranean Sea. It is characterized by recurrent episodes of fever and polyserositis and rash. Recently, MEFV gene analysis determines the definitive diagnosis of FMF. In this study, we analyzed 12 MEFV gene mutations in more than 200 FMF patients, pr...

طیف جهش های ژن GJB2 در نانوایان غیر سندرومی آتوزومی مغلوب در استان یزد

Introduction: Hearing loss is the most common sensory neural defect in humans, affecting 1 in 1000 neonates, with over half of these cases predicted to be hereditary in nature. Most hereditary hearing loss is inherited in a recessive fashion, accounting for approximately 80 % of non-syndromic hearing loss (NSHL). Mutations in GJB2 gene are major cause of inherited deafness in the European an...

Association of Pathogenic Missense and Nonsense Mutations in Mitochondrial COII Gene with Familial Adenomatous Polyposis (FAP)

Nuclear genetic mutations have been extensively investigated in solid tumors. However, the role of the mitochondrial genome remains uncertain. Since the metabolism of solid tumors is associated with aerobic glycolysis and high lactate production, tumors may have mitochondrial dysfunctions. Familial adenomatous polyposis (FAP) is a rare form‌ of colorectal cancer and an autosomal dominant inheri...