title: A DFNA5 mutation identified in Japanese families with autosomal dominant hereditary hearing loss.
abstract: Mutations in DFNA5 lead to autosomal dominant nonsyndromic hereditary hearing loss (NSHHL). To date, four different mutations in DFNA5 have been reported to cause hearing loss. A 3 bp deletion mutation (c.991-15_991-13del) was identified in Chinese and Korean families with autosomal dominant NSHHL, which suggested that the 3 bp deletion mutation was derived from a single origin. In the present study, we performed genetic screening of mutations in the interval between intron 6 and exon 9 of DFNA5 in 65 Japanese patients with autosomal dominant NSHHL and identified the c.991-15_991-13del mutation in two patients. Furthermore, we compared the DFNA5-linked haplotypes consisting of intragenic SNPs between the reported Chinese and Korean families and found that the Japanese patients showed a shared region spanning 41,874 bp. This is the first report of DFNA5 mutations in Japanese patients with autosomal dominant NSHHL, supporting the suggestion that the 3 bp deletion mutation occurred in their ancestors.
authors: Department of Otolaryngology, Tokyo Medical and Dental University, Tokyo, Japan.
authors: Ayako
authors: A
authors: Nishio
authors: Yoshihiro
authors: Y
authors: Noguchi
authors: Tatsuya
authors: T
authors: Sato
authors: Taeko K
authors: TK
authors: Naruse
authors: Akinori
authors: A
authors: Kimura
authors: Akira
authors: A
authors: Takagi
authors: Ken
authors: K
authors: Kitamura
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D044466:Asian People / Q000235:genetics*; D002648:Child; D005091:Exons; D005260:Female; D034381:Hearing Loss / Q000235:genetics*; D006801:Humans; D007438:Introns; D007564:Japan; D008297:Male; D008875:Middle Aged; D009154:Mutation; D010375:Pedigree; D020641:Polymorphism, Single Nucleotide; D011960:Receptors, Estrogen / Q000235:genetics*; D055815:Young Adult; D000094524:Gasdermins
chemical_list: D011960:Receptors, Estrogen; C111432:GSDME protein, human; D000094524:Gasdermins
keywords: DFNA5; autosomal dominant; hearing loss; hereditary; nystagmus; sensorineural