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KMID : 1189120110080020125
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대한의학유전학회지
2011 Volume.8 No. 2 p.125 ~ p.129
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A Case of Stickler Syndrome Type I Caused by a Novel Variant of COL2A1 Gene
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Lee Jin
Jung Chang-Woo
Kim Gu-Hwan
Lee Beom-Hee
Choi Jin-Ho
Yoo Han-Wook
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Abstract
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Stickler syndrome is a very rare connective tissue disorder. The authors of the present study describe an 11-month-old girl with high myopia, retinal abnormalities, flat nose, cleft palate, retrognathia, micrognathia, short stature and arthrogryposis. Radiological evaluation also showed irregularity of the epiphysis of the femur and tibia and spondyloepiphyseal dysplasia. Genetic analysis using a peripheral blood sample revealed a novel variant c.787G>A (p.Gly246Asp) mutation of the COL2A1 gene. This is the first Korean case with Stickler syndrome confirmed by genetic testing.
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KEYWORD
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Stickler syndrome, COL2A1, Missense mutation
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Listed journal information
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