Intractable Rare Dis Res. 2012;1(1):30-34. (DOI: 10.5582/irdr.2012.v1.1.30)

Mutations in the RS1 gene in a Chinese family with X-linked juvenile retinoschisis.

Hou QF, Chu Y, Guo QN, Wu D, Liao SX


The purpose of our study was to identify the mutations in the retinoschisis 1 (RS1) gene, which was associated with X-linked retinoschisis (XLRS) in a four-generation Chinese family, and to provide the theoretical basis for gene diagnosis and gene therapy. Genomic DNA was extracted from peripheral leukocytes. All six exons and flanking intronic regions were amplified by polymerase chain reaction (PCR), followed by direct sequencing. Through our genetic analysis, one frameshift 573delG mutation was identified in the patients of this four-generation pedigree; however, this mutation was absent in normal or non-carrier subjects. In conclusion, this 573delG mutation is reported in the Chinese population for the first time. This mutation widens the mutational spectrum of RS1 in Asians. Identification of mutations in the RS1 gene and expanded information on clinical manifestations will facilitate early diagnosis, appropriate early therapy, and genetic counseling regarding the prognosis of XLRS.

KEYWORDS: X-linked juvenile retinoschisis, polymerase chain reaction, frameshift mutation, foveal schisis

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