Novel XLRS1 gene mutations cause X-linked juvenile retinoschisis in Chinese families.
OBJECTIVE
To investigate various XLRS1 (RS1) gene mutations in Chinese families with X-linked juvenile retinoschisis (XLRS or RS).


METHODS
Genomic DNA was isolated from leukocytes of 29 male patients with X-linked juvenile retinoschisis, 38 female carriers, and 100 normal controls. All 6 exons of the RS1 gene were amplified by polymerase chain reaction, and the RS1 gene mutations were determined by direct sequencing.


RESULTS
Eleven different RS1 mutations in 12 families were identified in the 29 male patients. The mutations comprised eight missense, two frameshift, and one splice donor site mutation. Four of these mutations, one frameshift mutation (26 del T) in exon 1, one frameshift mutation (488 del G) in exon 5, Asp145His and Arg156Gly in exon 5, have not been previously described. One novel non-disease-related polymorphism, 576C to T (Pro192Pro) in exon 6, was also found. Six recurrent mutations, Ser73Pro and Arg102Gln mutations in exon 4 and Arg200Cys, Arg209His, Arg213Gln, and Cys223Arg mutations in exon 6, were also identified in this study.


CONCLUSIONS
RS1 gene mutations caused X-linked juvenile retinoschisis in these Chinese families.
Ma
Xiang
X
Eye Center of Peking University, People's Hospital, Peking University, Beijing, People's Republic of China.
Li
Xiaoxin
X
Wang
Lihua
L
D000328:Adult; D044466:Asian People / Q000235:genetics*; D002681:China / Q000453:epidemiology; D005091:Exons / Q000235:genetics; D005136:Eye Proteins / Q000235:genetics*; D005260:Female; D006579:Heterozygote; D006801:Humans; D008297:Male; D008875:Middle Aged; D009154:Mutation; D010375:Pedigree; D016133:Polymerase Chain Reaction; D041441:Retinoschisis / Q000235:genetics*; D017422:Sequence Analysis, DNA
D005136:Eye Proteins; C108726:RS1 protein, human