Article
Three novel GJB2 (connexin 26) variants associated with autosomal dominant syndromic and nonsyndromic hearing loss.
American journal of medical genetics. Part A - 1 Apr 2018
DeMille Desiree, Carlston Colleen M, Tam Oliver H, Palumbos Janice C, Stalker Heather J, Mao Rong, Zori Roberto T, Viskochil David H, Park Albert H, Carey John C
Abstract excerpt
Connexin 26 (Cx26), encoded by the GJB2 gene, is a key protein involved in the formation of gap junctions in epithelial organs including the inner ear and palmoplantar epidermis. Pathogenic variants in GJB2 are responsible for approximately 50% of inherited sensorineural deafness. The majority of these variants are associated with autosomal recessive inheritance; however, rare reports of dominantly co-segregating...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.