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http://dx.doi.org/10.5734/JGM.2018.15.1.13

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

Kim, Da Hyun (Department of Pediatrics, Asan Medical Center Children's Hospital, University of Ulsan College of Medicine)
Heo, Sun Hee (Medical Genetics Center, Asan Medical Center Children's Hospital, University of Ulsan College of Medicine)
Seo, Go Hun (Department of Pediatrics, Asan Medical Center Children's Hospital, University of Ulsan College of Medicine)
Oh, Arum (Department of Pediatrics, Asan Medical Center Children's Hospital, University of Ulsan College of Medicine)
Kim, Taeho (Medical Genetics Center, Asan Medical Center Children's Hospital, University of Ulsan College of Medicine)
Kim, Gu-Hwan (Medical Genetics Center, Asan Medical Center Children's Hospital, University of Ulsan College of Medicine)
Yoon, Young Hee (Department of Ophthalmology, Asan Medical Center, University of Ulsan College of Medicine)
Yoo, Han-Wook (Department of Pediatrics, Asan Medical Center Children's Hospital, University of Ulsan College of Medicine)
Lee, Beom Hee (Department of Pediatrics, Asan Medical Center Children's Hospital, University of Ulsan College of Medicine)
Publication Information
Journal of Genetic Medicine / v.15, no.1, 2018 , pp. 13-16 More about this Journal
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.
Keywords
Retinoschisis; Mutation; Multiplex ligation-dependent probe amplification;
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