Low prevalence of Connexin 26 (GJB2) variants in Pakistani families with autosomal recessive non-syndromic hearing impairment
نویسندگان
چکیده
منابع مشابه
Connexin 26 and autosomal recessive non-syndromic hearing loss
It has long been recognized that heredity plays a major role in hearing impairment. Although the facts about the genetic basis of hearing loss have fascinated both clinicians and geneticists for a long time, it is only within the last few years that the genes and molecular mechanisms underlying deafness have begun to be discovered. There is a great deal of genetic heterogeneity in deafness. Thi...
متن کاملInvestigating Seven Recently Identified Genes in 100 Iranian Families with Autosomal Recessive Non-syndromic Hearing Loss
Objectives: Hearing loss (HL) is the most common sensory disorder, and affects 1 in 1000 newborns. About 50% of HL is due to genetics and 70% of them are non-syndromic with a recessive pattern of inheritance. Up to now, more than 50 genes have been detected which are responsible for autosomal recessive non-syndromic hearing loss, (ARNSHL). In Iran, HL is one of the most common disabilitie...
متن کاملGenetic Spectrum of Autosomal Recessive Non-Syndromic Hearing Loss in Pakistani Families
The frequency of inherited bilateral autosomal recessive non-syndromic hearing loss (ARNSHL) in Pakistan is 1.6/1000 individuals. More than 50% of the families carry mutations in GJB2 while mutations in MYO15A account for about 5% of recessive deafness. In the present study a cohort of 30 ARNSHL families was initially screened for mutations in GJB2 and MYO15A. Homozygosity mapping was performed...
متن کاملAutosomal recessive non-syndromic hearing loss in the Lebanese population: prevalence of the 30delG mutation and report of two novel mutations in the connexin 26 (GJB2) gene.
EDITOR—The most common sensory deficit in humans is hearing loss, aVecting 1 in 1000 children, with approximately half of the cases having a genetic cause. The majority of these genetic causes are non-syndromic, of which approximately 75% have an autosomal recessive mode of inheritance. So far, nearly 30 genes that cause non-syndromic recessive deafness (NSRD) have been located (for review see ...
متن کاملThe DFNB1 subtype of autosomal recessive non-syndromic hearing impairment.
Inherited hearing impairment is a frequent and highly heterogeneous condition. Among the different subtypes of autosomal recessive non-syndromic hearing impairment, DFNB1 is remarkable for its high frequency in most populations. It is caused by mutations in the coding region or splice-sites of the GJB2 gene, or by mutations affecting regulatory sequences that are essential for the expression of...
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ژورنال
عنوان ژورنال: Clinical Genetics
سال: 2004
ISSN: 0009-9163
DOI: 10.1111/j.1399-0004.2005.00379.x