title: Evidence for a founder mutation causing DFNA5 hearing loss in East Asians.
abstract: Mutations in the DFNA5 gene are known to cause autosomal dominant non-syndromic hearing loss (ADNSHL). To date, five DFNA5 mutations have been reported, all of which were different in the genomic level. In this study, we ascertained a Korean family with autosomal dominant, progressive and sensorineural hearing loss and performed linkage analysis that revealed linkage to the DFNA5 locus on chromosome 7. Sequence analysis of DFNA5 identified a 3-bp deletion in intron 7 (c.991-15_991-13del) as the cause of hearing loss in this family. As the same mutation had been reported in a large Chinese family segregating DFNA5 hearing loss, we compared their DFNA5 mutation-linked haplotype with that of the Korean family. We found a conserved haplotype, suggesting that the 3-bp deletion is derived from a single origin in these families. Our observation raises the possibility that this mutation may be a common cause of autosomal dominant progressive hearing loss in East Asians.
authors.affiliation: Soree Ear Clinics, Seoul, South Korea.
authors.forename: Hong-Joon
authors.initials: HJ
authors.lastname: Park
authors.forename: Hyun-Ju
authors.initials: HJ
authors.lastname: Cho
authors.forename: Jeong-In
authors.initials: JI
authors.lastname: Baek
authors.forename: Tamar
authors.initials: T
authors.lastname: Ben-Yosef
authors.forename: Tae-Jun
authors.initials: TJ
authors.lastname: Kwon
authors.forename: Andrew J
authors.initials: AJ
authors.lastname: Griffith
authors.forename: Un-Kyung
authors.initials: UK
authors.lastname: Kim
mesh_terms: D044466:Asian People / Q000235:genetics*; D002681:China; D002897:Chromosomes, Human, Pair 7 / Q000235:genetics; D005190:Family; D018703:Founder Effect; D008040:Genetic Linkage; D006239:Haplotypes; D006319:Hearing Loss, Sensorineural / Q000235:genetics*; D006801:Humans; D007723:Korea; D009154:Mutation; D010375:Pedigree; D011960:Receptors, Estrogen / Q000235:genetics*; D000094524:Gasdermins
chemical_list: D011960:Receptors, Estrogen; C111432:GSDME protein, human; D000094524:Gasdermins