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KMID : 0882420140870060738
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Korean Journal of Medicine
2014 Volume.87 No. 6 p.738 ~ p.742
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A Case of Type 1 Stickler Syndrome Caused by a Novel Mutation in COL2A1
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Park Dong-Kyu
Kim Shin-Hye
Lee Beom-Hee
Kim Gu-Hwan
Yoo Han-Wook
Park Mi-Jung
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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.
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KEYWORD
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Stickler syndrome, COL2A1
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