A Novel Frameshift Mutation of the USH2A Gene in a Korean Patient with Usher Syndrome Type II

作者：Boo Sung Hyun; Song Min Jung; Kim Hee Jin; Cho Yang Sun; Chu Hosuk; Ko Moon Hee; Chung Won Ho; Kim Jong Won; Hong Sung Hwa^*

来源：Clinical and Experimental Otorhinolaryngology, 2013, 6(1): 41-44.

DOI：10.3342/ceo.2013.6.1.41

• Usher syndrome type II
• USU2A
• Mutation
• Frameshift
• Korea

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 refit-fit:is 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 progessive 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.

• 出版日期2013-3