American Journal of Medical Genetics Part A · 2005 · 87 citations · 37 references
Life SciencesGeneticsMolecular GeneticsHuman GeneticsMedical GeneticsNeurogeneticsCochlear DisordersCongenital DisordersGenetic DisordersHearing ImpairmentHearing LossMendelian DisordersClinical PrevalenceDisorderGenetic Load AssessmentGeographic Variation AnalysisGeographic Variation StudiesHearing Loss EtiologyHeterogeneityNon-syndromic Hearing Loss
Hereditary hearing loss (HHL) is a very common disorder. When inherited in an autosomal recessive manner, it typically presents as an isolated finding. Interestingly and unexpectedly, in spite of extreme heterogeneity, mutations in one gene, GJB2, are the most common cause of congenital severe-to-profound deafness in many different populations. In this study, we assessed the contributions made by GJB2 mutations and chromosome 13 g.1777179_2085947del (the deletion more commonly known as del (GJB6-D13S1830) that includes a portion of GJB6 and is hereafter called Delta(GJB6-D13S1830)) to the autosomal recessive non-syndromic deafness (ARNSD) genetic load in Iran. Probands from 664 different nuclear families were investigated. GJB2-related deafness was found in 111 families (16.7%). The carrier frequency of the 35delG mutation showed a geographic variation that is supported by studies in neighboring countries. Delta(GJB6-D13S1830) was not found. Our prevalence data for GJB2-related deafness reveal a geographic pattern that mirrors the south-to-north European gradient and supports a founder effect in southeastern Europe.
37
Connexin 26 mutations in hereditary non-syndromic sensorineural deafness
David P. Kelsell, John Dunlop, Howard P. Stevens et al. · Nature · 1997 · 1.5K citations
Connexin-26 mutations in sporadic and inherited sensorineural deafness
Xavier Estivill, Paolo Fortina, Saul Surrey et al. · The Lancet · 1998 · 643 citations · Full text