COL2A1 유전자의 새로운 돌연변이에 의한 제1형 Stickler 증후군 1예
A Case of Type 1 Stickler Syndrome Caused by a Novel Mutation in COL2A1
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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 mentalretardation. Sequencing of the COL2A1 gene revealed a novel mutation, c.3055C > T (p.Pro1019Ser), consistent with a diagnosisof Type 1 Stickler Syndrome.
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 mentalretardation. Sequencing of the COL2A1 gene revealed a novel mutation, c.3055C > T (p.Pro1019Ser), consistent with a diagnosisof Type 1 Stickler Syndrome.
참고문헌 (10)
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