A novel mutation in XLRS1 gene in X-linked juvenile retinoschisis

ological findings, and family histories that are consistent with Xlinked inheritance and identification of a RS1 mutation [3]. Several Korean patients have been reported carrying the RS1 mutations [4-7]. In this report, we described a patient with exon 1 deletion of the RS1 gene. Considering X-linked inheritance pattern, validation of a carrier state of a patient’s mother is important for the genetic counseling of other family members and for the future reproductive plan. Exonic deletion in a carrier is not easy to identify when an appropriate commercial kit is not available. In this report, we did the multiplex ligation-dependent probe amplification (MLPA) analysis using peripheral leukocytes and confirmed the carrier state of the patient’s mother. A novel mutation in XLRS1 gene in X-linked juvenile retinoschisis