| 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 |
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 |
| COL2A1 유전자의 새로운 돌연변이에 의한 제1형 Stickler 증후군 1예 |
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박동규1, 김신혜1, 이범희2, 김구환2, 유한욱2, 박미정1 |
1인제대학교 의과대학 상계백병원 소아청소년과학교실
2울산대학교 의과대학 서울아산병원 소아청소년병원 의학유전학센터 |
Correspondence:
Mi Jung Park, Tel: +82-2-950-1071, Fax: +82-2-951-1246, Email: pmj@paik.ac.kr
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Received: 22 November 2013 • Revised: 19 March 2014 • Accepted: 22 April 2014 |
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| Abstract |
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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. |
| Key Words:
Stickler syndrome; COL2A1 |
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