HOXA1 Mutations are Not Commonly Associated with Non-Syndromic Deafness

Whole Exome Sequencing Identifies New Causative Mutations in Tunisian Families with Non-Syndromic Deafness

Identification of the causative mutations in patients affected by autosomal recessive non syndromic deafness (DFNB forms), is demanding due to genetic heterogeneity. After the exclusion of GJB2 mutations and other mutations previously reported in Tunisian deaf patients, we performed whole exome sequencing in patients affected with severe to profound deafness, from four unrelated consanguineous ...

Connexin26 mutations associated with the most common form of non-syndromic neurosensory autosomal recessive deafness (DFNB1) in Mediterraneans.

Non-syndromic neurosensory autosomal recessive deafness (NSRD) is the most common form of genetic hearing loss. Previous studies defined at least 15 human NSRD loci. Recently we demonstrated that DFNB1, located on the long arm of chromosome 13, accounts for approximately 80% of cases in the Mediterranean area. Further analysis with additional markers now identifies several recombinants which na...

Molecular genetics of non - syndromic deafness Summary

frequency of connexin26 gene mutations in autosomal recessive non-syndromic deafness in kermanshah(2002-4)

introduction: hearing loss is the most common sensory defect in humans, affecting approximately 1 in 1000 neonates in which genetic factors are involved in more than 50%. connexin 26 or gjb2 gene mutations are responsible for half of autosomal recessive non-syndromic hearing losses. the purpose of this study was to determine the gjb2 mutations frequency in autosomal recessive non-syndromic deaf...

Evaluation of GJB2 and GJB6 Mutations in Patients Afflicted with Non-syndromic Hearing Loss

Background Non-syndromic hearing loss (NSHL) is assumed as one of the highly prevalent congenital defects in the world. In this regard, gap junction protein beta 2(GJB2), and gap junction protein beta 6(GJB6) mutations are considered as the leading congenital causes of deafness. The present study aimed to assess the prevalence of GJB2 and GJB6 mutations in NSHL cases. Materials and Methods This...