GJB2 sequencing (Connexin 26)
Mutations in GJB2 [OMIM#121011] are typically characterized by congenital, non-syndromic, and non-progressive sensorineural deafness. This type of hearing loss is referred to as DFNB1 [OMIM#220290]. Individuals with homozygous GJB2 mutations can present with varying degrees of hearing loss from mild to profound. Mutations is the GJB2 are the most common genetic cause of non-syndromic deafness and account for 40% of all cases of pre-lingual hearing loss. Of individuals with DFNB1, 98% have two identifiable GJB2 mutations and 2% are double heterozygotes, having one mutation in GJB2 and one of two large deletions in GJB6 [OMIM#604418].
|Information Sheet on GJB2 Testing|