J Genet Med.  2018 Jun;15(1):13-16. 10.5734/JGM.2018.15.1.13.

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

Affiliations
  • 1Department of Pediatrics, Asan Medical Center Children's Hospital, University of Ulsan College of Medicine, Seoul, Korea. bhlee@amc.seoul.kr
  • 2Medical Genetics Center, Asan Medical Center Children's Hospital, University of Ulsan College of Medicine, Seoul, Korea.
  • 3Department of Ophthalmology, Asan Medical Center, University of Ulsan College of Medicine, Seoul, Korea.

Abstract

X-linked juvenile retinoschisis (XLRS) is characterized by the progressive loss of visual acuity and vitreous hemorrhage. XLRS is caused by a mutation of retinoschisin 1 (RS1) gene at Xp22.13. In the current report, a 2-year-old Korean patient with XLRS was described. The germline deletion of exon 1 was identified in 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. To confirm the carrier state of his mother, the multiplex ligation-dependent probe amplification analysis was done using peripheral leukocytes and found the heterozygous deletion of exon 1 in his mother.

Keyword

Retinoschisis; Mutation; Multiplex ligation-dependent probe amplification
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