Compound heterozygosity for dominant and recessive GJB2 mutations: effect on phenotype and review of the literature.

Abstract excerpt

Mutations in GJB2 (which encodes the gap-junction protein connexin 26) are the most common cause of genetic deafness in many populations. To date, more than 100 deafness-causing mutations have been described in this gene. The majority of these mutations are inherited in an autosomal recessive manner, but approximately 19 GJB2 mutations have been associated with dominantly inherited hearing loss. One, W44C, was...

Topics

Share this publication in a Topic to start or enrich a Post.

• Share to Connexin 26
• Share to Connexins
• Share to Family Health