title: Clinical and genetic features of nonsyndromic autosomal dominant sensorineural hearing loss: KCNQ4 is a gene responsible in Japanese.
abstract: Sixteen Japanese nonsyndromic autosomal dominant sensorineural hearing loss (ADSNHL) families were investigated clinically as well as genetically. Most families showed postlingual hearing loss. Although the severity of their hearing loss varied, most patients showed mild-moderate sensorineural hearing loss of a progressive nature. Mutation analysis was performed for the MYO7A, KCNQ4, and GJB3 genes, which are known to be responsible for autosomal dominant sensorineural hearing loss. The present study reports that a mutation in KCNQ4, a member of a large family of potassium channel genes, was responsible for ADSNHL in one Japanese family.
authors.affiliation: Department of Otorhinolaryngology, Hirosaki University School of Medicine, Japan.
authors.forename: J
authors.initials: J
authors.lastname: Akita
authors.forename: S
authors.initials: S
authors.lastname: Abe
authors.forename: H
authors.initials: H
authors.lastname: Shinkawa
authors.forename: W J
authors.initials: WJ
authors.lastname: Kimberling
authors.forename: S
authors.initials: S
authors.lastname: Usami
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D001299:Audiometry; D001483:Base Sequence; D002648:Child; D002675:Child, Preschool; D017630:Connexins / Q000235:genetics; D004252:DNA Mutational Analysis; D004398:Dyneins; D005091:Exons / Q000235:genetics; D005260:Female; D005799:Genes, Dominant / Q000235:genetics*; D005838:Genotype; D006319:Hearing Loss, Sensorineural / Q000235:genetics* / Q000503:physiopathology*; D006801:Humans; D007564:Japan; D051656:KCNQ Potassium Channels; D008297:Male; D008875:Middle Aged; D009154:Mutation; D000081412:Myosin VIIa; D009218:Myosins / Q000235:genetics; D010375:Pedigree; D010641:Phenotype; D011110:Polymorphism, Genetic / Q000235:genetics; D015221:Potassium Channels / Q000235:genetics*; D024642:Potassium Channels, Voltage-Gated
chemical_list: D017630:Connexins; D051656:KCNQ Potassium Channels; C117367:KCNQ4 protein, human; C000631455:MYO7A protein, human; D000081412:Myosin VIIa; D015221:Potassium Channels; D024642:Potassium Channels, Voltage-Gated; C068044:GJB3 protein, human; D009218:Myosins; D004398:Dyneins