BACKGROUND Autosomal recessive non-syndromic hearing loss (ARNSHL) is the most common hereditary form of deafness, and exhibits a great deal of genetic heterogeneity. So far, more than seventy various DFNB loci have been mapped for ARNSHL by linkage analysis. The contribution of three common DFNB loci including DFNB3, DFNB9, DFNB21 and gap junction beta-2 (GJB2) gene mutations in ARNSHL was inv...

Genetic factors are thought to account for approximately one half of cases of childhood hearing loss, the majority of which is non-syndromic and not associated with other abnormalities. Seventy-seven percent of hereditary, non-syndromic, prelingual deafness is autosomal recessive, 22% is autosomal dominant, and 1% is transmitted as a matrilineal or X linked trait. So far, more than 30 distinct ...

BACKGROUND We aimed to determine the contribution of four DFNB loci and mutation analysis of gap junction beta-2 (GJB2) and GJB4 genes in autosomal recessive nonsyndromic hearing loss (ARNSHL) in South of Iran. MATERIALS AND METHODS A total of 36 large ARNSHL pedigrees with at least two affected subjects were enrolled in the current study. The GJB2 and GJB4 genes mutations were screened using...

background: autosomal recessive non-syndromic hearing loss (arnshl) is the most common hereditary form of deafness, and exhibits a great deal of genetic heterogeneity. so far, more than seventy various dfnb loci have been mapped for arnshl by linkage analysis. the contribution of three common dfnb loci including dfnb3, dfnb9, dfnb21 and gap junction beta-2 (gjb2) gene mutations in arnshl was in...

the incidence of pre-lingual hearing loss (hl) is about 1 in 1000 neonates. more than 60% of cases are inherited. non-syndromic hl (nshl) is extremely heterogeneous: more than 130 loci have been identified so far. the most common form of nshl is the autosomal recessive form (arnshl). in this study, a cohort of 36 big arnshl pedigrees with 4 or more patients from 7 provinces of iran was investig...

The incidence of pre-lingual hearing loss (HL) is about 1 in 1000 neonates. More than 60% of cases are inherited. Non-syndromic HL (NSHL) is extremely heterogeneous: more than 130 loci have been identified so far. The most common form of NSHL is the autosomal recessive form (ARNSHL). In this study, a cohort of 36 big ARNSHL pedigrees with 4 or more patients from 7 provinces of Iran was investig...

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...