A novel connexin 26 mutation associated with autosomal recessive sensorineural deafness.
Mutations in the connexin 26 (Cx26) gene (GJB2) are a common cause of hereditary hearing impairment which affects approximately 1 in 2000 newborn children. We report the identification of a novel Cx26 point mutation (439 G-->A) linked to familial, autosomal recessive, sensorineural hearing loss. This missense mutation (E147K) is located in the highly conserved, putative K(+) channel lining sequence of the third transmembrane domain (TM3) of Cx26. Hearing impairment associated with this mutation was congenital, moderate to profound and showed no signs of progressive deterioration.
Frei
Klemens
K
Department of Otorhinolaryngology, Krankenhaus der Barmherzigen Brüder, Vienna, Austria. klemens.frei@akh-wien.ac.at
Lucas
Trevor
T
Ramsebner
Reinhard
R
Schöfer
Christian
C
Baumgartner
Wolf-Dieter
WD
Weipoltshammer
Klara
K
Erginel-Unaltuna
Nihan
N
Wachtler
Franz J
FJ
Kirschhofer
Karin
K
D000293:Adolescent; D000328:Adult; D000595:Amino Acid Sequence; D016022:Case-Control Studies; D002648:Child; D000072259:Connexin 26; D017630:Connexins / Q000235:genetics*; D005260:Female; D005808:Genes, Recessive; D006319:Hearing Loss, Sensorineural / Q000235:genetics*; D006801:Humans; D007223:Infant; D008297:Male; D008969:Molecular Sequence Data; D020125:Mutation, Missense; D010375:Pedigree; D017354:Point Mutation / Q000235:genetics*; D012150:Polymorphism, Restriction Fragment Length
D017630:Connexins; C000607042:GJB2 protein, human; D000072259:Connexin 26