C.35delG/ GJB2 and del(GJB6-D13S1830) mutations in Croatians with prelingual non-syndromic hearing impairment

C.35delG/ GJB2 and del(GJB6-D13S1830) mutations in Croatians with prelingual non-syndromic hearing impairment

BACKGROUND C.35delG/GJB2 mutation is the most frequent genetic cause of deafness in Caucasians. Another frequent mutation in some Caucasian populations is del(GJB6-D13S1830). Both GJB2 and GJB6 genes belong to the same DFNB1 locus and when the two mutations are found in combination in a hearing-impaired person, a digenic pattern of inheritance is suggested. METHODS We examined 63 Croatian sub...

GJB2 and GJB6 mutations in Croatians with prelingual non-syndromic hearing impairment

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...

Contribution of GJB2 Mutations and Four Common DFNB Loci in Autosomal Recessive Non-Syndromic Hearing Impairment in Markazi and Qom Provinces of Iran

This study aimed to investigate the contribution of four common DFNB (“DFN” for deafness and “B” for autosomal resessive locus) loci and GJB2 gene mutations (exon 2) in hearing impairment in individuals living in Markazi and Qom provinces of Iran. Forty consanguineous Iranian families with at least three affected individuals in family or pedigree who suffer from an autosomal recessive non-syndr...

GJB2 and SLC26A4 gene mutations in children with non-syndromic hearing loss in Southern China

Non-syndromic hearing loss (NSHL) is a major public health issue and affects a substantial proportion of newborns worldwide. Currently little information is available about the molecular etiology of hearing impairment in the Chinese population. Therefore, this study aimed to perform a comprehensive investigation on the genetic mutation patterns of non-syndromic deafness in Zhongshan City, a cit...