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Case Report
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Korean J Med. 2014;87(6):738-742. Published online December 1, 2014.
DOI: https://doi.org/10.3904/kjm.2014.87.6.738
- COL2A1 유전자의 새로운 돌연변이에 의한 제1형 Stickler 증후군 1예
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박동규1, 김신혜1, 이범희2, 김구환2, 유한욱2, 박미정1
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1인제대학교 의과대학 상계백병원 소아청소년과학교실
2울산대학교 의과대학 서울아산병원 소아청소년병원 의학유전학센터
- A Case of Type 1 Stickler Syndrome Caused by a Novel Mutation in COL2A1
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Dong Kyu Park1, Shin Hye Kim1, Beom Hee Lee2, Gu-Hwan Kim2, Han-Wook Yoo2, Mi Jung Park1
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1Department of Pediatrics, Sanggye Paik Hospital, Inje University, College of Medicine, Seoul, Korea
2Medical Genetics Center, Asan Medical Center, Children’s Hospital, University of Ulsan College of Medicine, Seoul, Korea
- Corresponding author: Mi Jung Park ,Tel: +82-2-950-1071, Fax: +82-2-951-1246, Email: pmj@paik.ac.kr
- Received: November 22, 2013; Revised: March 19, 2014 Accepted: April 22, 2014.
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- Abstract
- Stickler syndrome is a genetic disorder characterized by ophthalmologic, craniofacial, audiologic, and joint problems. In this report, we describe a 10-year-old boy presenting with a flat face, high myopia, retinal detachment, arthropathy, short stature, and mental retardation. Sequencing of the COL2A1 gene revealed a novel mutation, c.3055C > T (p.Pro1019Ser), consistent with a diagnosis of Type 1 Stickler Syndrome.
Keywords :Stickler syndrome, COL2A1
