Detection and prenatal diagnosis for RS1 gene mutations in two Chinese families with X-linked juvenile retinoschisis / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To identify potential mutations of retinoschisis 1 (RS1) gene responsible for X-linked retinoschisis (XLRS) in two Chinese families.</p><p><b>METHODS</b>The 6 exons and flanking intronic regions were analyzed with PCR and direct sequencing.</p><p><b>RESULTS</b>Two RS1 mutations were identified in the two families, which included 1 frameshift mutation (c.573delG, p.Pro192fs) and 1 missense mutation (c.626G>A, p.Arg209His).</p><p><b>CONCLUSION</b>Two RS1 mutations have been identified, among which Pro192fs mutation is discovered for the first time in Chinese population. Above results may enrich our understanding of the clinical manifestations of XLRS and facilitated early diagnosis and genetic counseling for the disease.</p>