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Journal of genetic medicine v.15 no.1, 2018년, pp.13 - 16   KCI
본 등재정보는 저널의 등재정보를 참고하여 보여주는 베타서비스로 정확한 논문의 등재여부는 등재기관에 확인하시기 바랍니다.

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  );
  • 초록

    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.


  • 주제어

    Retinoschisis .   Mutation .   Multiplex ligation-dependent probe amplification.  

  • 참고문헌 (13)

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    1. 2013 "고셔병에서 샤프론 치료" 대한유전성대사질환학회지 = Journal of the Korean Society of Inherited Metabolic Disease 13 (1): 37~42    
  • Seo, Go Hun (6)

  • 김구환 (60)

  • Lee, Beom Hee (38)

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