Korean J Med.
2014 Dec;87(6):738-742. 10.3904/kjm.2014.87.6.738.
A Case of Type 1 Stickler Syndrome Caused by a Novel Mutation in COL2A1
- Affiliations
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- 1Department of Pediatrics, Sanggye Paik Hospital, Inje University, College of Medicine, Seoul, Korea. pmj@paik.ac.kr
- 2Medical Genetics Center, Asan Medical Center, Children's Hospital, University of Ulsan College of Medicine, Seoul, Korea.
- KMID: 2269372
- DOI: http://doi.org/10.3904/kjm.2014.87.6.738
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.
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