Korean J Ophthalmol.  2006 Mar;20(1):62-64. 10.3341/kjo.2006.20.1.62.

A Novel Mutation in the XLRS1 Gene in a Korean Family with X-linked Retinoschisis

Affiliations
  • 1Department of Ophthalmology, Institute of Vision Research, Yonsei University College of Medicine, Seoul, Korea. hjkoh@yumc.yonsei.ac.kr
  • 2Department of Biochemistry, Sejong University, Seoul, Korea.

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.

Keyword

Missense; Mutation; X-linked retinoschisis; XLRS1

MeSH Terms

Retinoschisis/*genetics
Photoreceptors, Vertebrate
Pedigree
*Mutation, Missense
Male
Korea
Humans
Eye Proteins/*genetics
DNA/*genetics
Child
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