title: A novel missense variant in the DIAPH1 gene in a Korean family with autosomal dominant nonsyndromic hearing loss.
abstract: Hair cells in the cochlea display highly regulated actin polymerization, which is mediated by the human diaphanous-related formin 1 gene (DIAPH1; also called DFNA1, DIA1). DFNA1, the first type of autosomal dominant nonsyndromic hearing loss (ADNSHL), is known to be associated with mutations in DIAPH1. However, no genetic study of DFNA1 in Koreans with hearing loss has yet been reported. A 51-year-old patient in a Korean family with ADNSHL was examined by pure-tone audiometry, and genetic analysis of DIAPH1 was performed. A novel variant, p.I530S (c.1589T > G), was identified in the DIAPH1 gene, and the mutation was located in the highly conserved coiled-coil domain of the DIA1 protein, where an amino acid substitution was predicted to change the domain structure. Further functional investigations will provide more information to help us understand the role of DIAPH1 in maintenance of hair cell function in the auditory pathway.
authors.affiliation: Department of Biology, College of Natural Sciences, Kyungpook National University.
authors.forename: Tae-Hun
authors.initials: TH
authors.lastname: Kang
authors.forename: Jeong-In
authors.initials: JI
authors.lastname: Baek
authors.forename: Borum
authors.initials: B
authors.lastname: Sagong
authors.forename: Hong-Joon
authors.initials: HJ
authors.lastname: Park
authors.forename: Chan Ik
authors.initials: CI
authors.lastname: Park
authors.forename: Kyu-Yup
authors.initials: KY
authors.lastname: Lee
authors.forename: Un-Kyung
authors.initials: UK
authors.lastname: Kim
mesh_terms: D048868:Adaptor Proteins, Signal Transducing / Q000235:genetics* / Q000378:metabolism; D000595:Amino Acid Sequence; D019943:Amino Acid Substitution; D001483:Base Sequence; D000080865:Formins; D006319:Hearing Loss, Sensorineural / Q000235:genetics* / Q000378:metabolism; D040941:Heredity; D006801:Humans; D008297:Male; D008875:Middle Aged; D020125:Mutation, Missense; D010375:Pedigree
chemical_list: D048868:Adaptor Proteins, Signal Transducing; C108962:DIAPH1 protein, human; D000080865:Formins