The M34T allele variant of connexin 26.
GJB2 encodes the protein Connexin 26, one of the building blocks of gap junctions. Each Connexin 26 molecule can oligomerize with five other connexins to form a connexon; two connexons, in turn, can form a gap junction. Because mutations in GJB2 are the most common cause of congenital severe-to-profound autosomal recessive nonsyndromic hearing loss, the effect of the Connexin 26 allele variants on this dynamic 'construction' process and the function of any gap junctions that do form is particularly germane. One of the more controversial allele variants, M34T, has been hypothesized to cause autosomal dominant nonsyndromic hearing loss. In this paper, we present clinical and genotypic data that refutes this hypothesis and suggests that the effect of the M34T allele variant may be dependent on the mutations segregating in the opposing allele.
Cucci
R A
RA
Department of Otolaryngology, Head and Neck Surgery, Iowa City, IA 52242, USA.
Prasad
S
S
Kelley
P M
PM
Green
G E
GE
Storm
K
K
Willocx
S
S
Cohn
E S
ES
Van Camp
G
G
Smith
R J
RJ
D000483:Alleles; D019943:Amino Acid Substitution; D001299:Audiometry; D000072259:Connexin 26; D017630:Connexins / Q000737:chemistry / Q000235:genetics*; D003638:Deafness / Q000235:genetics*; D005060:Europe; D005260:Female; D017629:Gap Junctions / Q000235:genetics; D005799:Genes, Dominant / Q000235:genetics; D005820:Genetic Testing; D014644:Genetic Variation / Q000235:genetics*; D005838:Genotype; D006801:Humans; D008297:Male; D009154:Mutation; D010375:Pedigree; D015203:Reproducibility of Results; D014481:United States
D017630:Connexins; C000607042:GJB2 protein, human; D000072259:Connexin 26