Purpose To identify mutations causing X-linked juvenile retinoschisis (XLRS) in Chinese families.
Methods Direct cycle sequencing was used to analyze all six coding exons and adjacent intronic regions of RS1 in 20 Chinese probands with X-linked juvenile retinoschisis.
Results Ten hemizygous mutations in RS1 were detected in 14 Chinese patients with retinoschisis. Four of those,c:176G>A(p:Cys59Tyr) in exon 3 , c:531T>G (p:Tyr177X), c:607C>G (p:Pro203Ala) and c:668G>A (p:Cys223Tyr) in exon 6, were novel. These mutations were not present in the 176 normal individuals. Six recurrent mutations, Glu72Lys, Arg102Trp, Glu146Lys, Arg182Cys, Arg200His and Glu215Val, were also identified in this study.
Conclusion RS1 is the main disease-linked gene for X-linked juvenile retinoschisis in Chinese population.