A Novel Mutation in the XLRS1 Gene in a Korean Family with X-linked Retinoschisis.
- Author:
Hyoung Jun KOH
1
;
Nam Soo JWA
;
Sung Soo KIM
;
Sung Chul LEE
;
Oh Woong KWON
Author Information
- Publication Type:Case Report ; Case Reports ; Research Support, Non-U.S. Gov't
- Keywords: Missense; Mutation; X-linked retinoschisis; XLRS1
- MeSH: Retinoschisis/*genetics; Photoreceptors, Vertebrate; Pedigree; *Mutation, Missense; Male; Korea; Humans; Eye Proteins/*genetics; DNA/*genetics; Child
- From:Korean Journal of Ophthalmology 2006;20(1):62-64
- CountryRepublic of Korea
- Language:English
- Abstract: PURPOSE: To report a novel missense mutation in the XLRS1 gene in a Korean family with X-linked retinoschisis. METHODS: Observation case report of a family with a proband with X-linked retinoschisis underwent complete ophthalmologic examination. Genomic DNA was excluded from the family's blood and all exons of the XLRS1 gene were amplified by polymerase chain reaction and analyzed using a direct sequencing method. RESULTS: A novel Leu103Phe missense mutation was identified. CONCLUSIONS: A novel Leu103Phe mutation is an additional missense mutation which is responsible for the pathogenesis of X-linked retinoschisis.
