title: Connexin 26 variants and auditory neuropathy/dys-synchrony among children in schools for the deaf.
abstract: Genetic and auditory studies of 731 children with severe-to-profound hearing loss in US schools for the deaf and 46 additional children receiving clinical services for hearing loss ranging from moderate to profound demonstrated that mutations in the connexin 26 (GJB2) and connexin 30 (GJB6) genes explain at least 12% of those with nonsyndromic sensorineural deafness. Otoacoustic emissions (OAEs) testing to detect functional outer hair cells indicated that 76 of the children had emissions and therefore may have (as yet unconfirmed) auditory neuropathy/dys-synchrony (AN/AD). Five of these children with OAEs were GJB2 homozygotes or compound heterozygotes with the genotypes 35delG/35delG, W77X/W77X, 35delG/360delGAG, 35delG/V95M, and V84M/M34T. In particular, unilateral AN/AD was confirmed in a child with moderate hearing loss and the 35delG/V95M genotype. Detecting OAEs in individuals with GJB2 mutations suggests that lack of functional gap junctions as a result of GJB2 mutations does not necessarily destroy all outer hair cell function.
authors.affiliation: Department of Genetics, Kresge Hearing Research Laboratory, Louisiana State University Health Sciences Center, New Orleans, Louisiana 70112, USA.
authors.forename: Xing
authors.initials: X
authors.lastname: Cheng
authors.forename: Li
authors.initials: L
authors.lastname: Li
authors.forename: Shanda
authors.initials: S
authors.lastname: Brashears
authors.forename: Thierry
authors.initials: T
authors.lastname: Morlet
authors.forename: San San
authors.initials: SS
authors.lastname: Ng
authors.forename: Charles
authors.initials: C
authors.lastname: Berlin
authors.forename: Linda
authors.initials: L
authors.lastname: Hood
authors.forename: Bronya
authors.initials: B
authors.lastname: Keats
mesh_terms: D000293:Adolescent; D002648:Child; D003056:Cochlear Nerve / Q000473:pathology; D000072259:Connexin 26; D000075302:Connexin 30; D017630:Connexins / Q000235:genetics*; D016057:Evoked Potentials, Auditory, Brain Stem; D034381:Hearing Loss / Q000209:etiology / Q000235:genetics*; D006319:Hearing Loss, Sensorineural / Q000235:genetics; D006801:Humans; D017084:Otoacoustic Emissions, Spontaneous; D000160:Vestibulocochlear Nerve Diseases / Q000150:complications
chemical_list: D000075302:Connexin 30; D017630:Connexins; C000607042:GJB2 protein, human; C491020:GJB6 protein, human; D000072259:Connexin 26