title: A Novel Frameshift Mutation of the USH2A Gene in a Korean Patient with Usher Syndrome Type II.
abstract: Usher syndrome type II (USH2) is the most common form of Usher syndrome, characterized by moderate to severe hearing impairment and progressive visual loss due to retinitis pigmentosa. It has been shown that mutations in the USH2A gene are responsible for USH2. The authors herein describe a 34-year-old Korean woman with the typical clinical manifestation of USH2; she had bilateral hearing disturbance and progressive visual deterioration, without vestibular dysfunction. Molecular genetic study of the USH2A gene revealed a novel frameshift mutation (c.2310delA; Glu771LysfsX17). She was heterozygous for this mutation, and no other mutation was found in USH2A, suggesting the possibility of an intronic or large genomic rearrangement mutation. To the best of our knowledge, this is the first report of a genetically confirmed case of USH2 in Korea. More investigations are needed to delineate genotype-phenotype correlations and ethnicity-specific genetic background of Usher syndrome.
authors.affiliation: Department of Otorhinolaryngology, Masan Samsung Hospital, Sungkyunkwan University School of Medicine, Masan, Korea.
authors.forename: Sung Hyun
authors.initials: SH
authors.lastname: Boo
authors.forename: Min-Jung
authors.initials: MJ
authors.lastname: Song
authors.forename: Hee-Jin
authors.initials: HJ
authors.lastname: Kim
authors.forename: Yang-Sun
authors.initials: YS
authors.lastname: Cho
authors.forename: Hosuk
authors.initials: H
authors.lastname: Chu
authors.forename: Moon-Hee
authors.initials: MH
authors.lastname: Ko
authors.forename: Won-Ho
authors.initials: WH
authors.lastname: Chung
authors.forename: Jong-Won
authors.initials: JW
authors.lastname: Kim
authors.forename: Sung Hwa
authors.initials: SH
authors.lastname: Hong
keywords: Frameshift; Korea; Mutation; USH2A; Usher syndrome type II