Clinical features of X linked juvenile retinoschisis in Chinesefamilies associated with novel mutations in the RS1 gene

[摘要] Purpose: To describe the clinical phenotype of X linked juvenileretinoschisis (XLRS) in 12 Chinese families with 11 different mutationsin the XLRS1 (RS1) gene.Methods: Complete ophthalmic examinations were carried out in 29affected males (12 probands), 38 heterozygous females carriers, and 100controls. The coding regions of the RS1 gene that encodesretinoschisin were amplified by polymerase chain reaction and directlysequenced.Results: Of the 29 male participants, 28 (96.6%) displayed typicalfoveal schisis. Eleven different RS1 mutations were identified in 12families; four of these mutations, two frameshift mutations (26 del T ofexon 1 and 488 del G of exon 5), and two missense mutations (Asp145Hisand Arg156Gly) of exon 5, had not been previously described. Onenon-disease-related polymorphism (NSP): 576C to T (Pro192Pro) change wasalso newly reported herein. We compared genotypes and observed moresevere clinical features in families with the following mutations:frameshift mutation (26 del T) of exon 1, the splice donor site mutation(IVS1+2T to C),or Arg102Gln, Arg209His, and Arg213Gln mutations.Conclusions: Severe XLRS phenotypes are associated with theframeshift mutation 26 del T, splice donor site mutation (IVS1+2T to C),and Arg102Gln, Asp145His, Arg209His, and Arg213Gln mutations. The widevariability in the phenotype in Chinese patients with XLRS and differentmutations in the RS1 gene is described. Identification of mutationsin the RS1 gene and expanded information on clinical manifestationswill facilitate early diagnosis, appropriate early therapy, and geneticcounseling regarding the prognosis of XLRS.

[学科分类] 生物化学/生物物理