[From gene to disease: deafness and connexin 26].
Deafness is genetically heterogeneous, yet it is estimated that approximately half of the heritable cases of autosomal recessive deafness are caused by mutations in the gene coding for connexin 26. Connexin 26 is thought to have an essential role in the transport of potassium ions back to the endolymph of the inner ear after sound stimulation.
Hoefsloot
L H
LH
Afd. Antropogenetica, klinisch moleculair geneticus, Universitair Medisch Centrum St Radboud, Postbus 9101, 6500 HB Nijmegen.
Kemperman
M
M
Cremers
C W R J
CW
D000072259:Connexin 26; D017630:Connexins / Q000235:genetics*; D003638:Deafness / Q000209:etiology / Q000235:genetics*; D005808:Genes, Recessive; D005838:Genotype; D006309:Hearing / Q000235:genetics / Q000502:physiology*; D006801:Humans; D009154:Mutation; D010641:Phenotype
D017630:Connexins; D000072259:Connexin 26