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

• 발행기관: 대한의학유전학회
• 저자명: Da Hyun Kim Sun Hee Heo Go Hun Seo Arum Oh Taeho Kim Gu-Hwan Kim Young Hee Yoon Han-Wook Yoo Beom Hee Lee
• 간행물 정보: 『대한의학유전학회지』제15권 제1호, 13~16쪽, 전체 4쪽
• 주제분류: 의약학 > 기타의약학
• 파일형태: PDF
• 발행일자: 2018.06.30

영문 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

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Introduction

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Discussion

키워드

Retinoschisis Mutation Multiplex ligation-dependent probe amplification