A novel mutation in the XLRS1 gene in a Korean family with X-linked retinoschisis.
OBJECTIVE
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.
Koh
Hyoung Jun
HJ
Department of Ophthalmology, Institute of Vision Research, Yonsei University College of Medicine, Seoul, Korea. hjkoh@yumc.yonsei.ac.kr
Jwa
Nam Soo
NS
Kim
Sung Soo
SS
Lee
Sung Chul
SC
Kwon
Oh Woong
OW
D002648:Child; D004247:DNA / Q000235:genetics*; D005136:Eye Proteins / Q000235:genetics*; D006801:Humans; D007723:Korea; D008297:Male; D020125:Mutation, Missense; D010375:Pedigree; D020419:Photoreceptor Cells, Vertebrate; D041441:Retinoschisis / Q000235:genetics*
D005136:Eye Proteins; C108726:RS1 protein, human; D004247:DNA