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KMID : 0918520140140020168
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Journal of the Korean Society of Inherited Metabolic Disease
2014 Volume.14 No. 2 p.168 ~ p.173
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A Case of Vascular Ehlers-Danlos Syndrome with Novel Mutation c.2931+2dupT in COL3A1 Gene
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Yoon You-Min
Kim Dong-Chan
Kang Min-Jae
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Abstract
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Vascular Ehlers-Danlos syndrome (vEDS) is an autosomal dominant disorder caused by a mutation of the type III collagen (COL3A1). The manifestation of vEDS can be seen in skin, joints, blood vessels, and internal organs. The diagnosis of vEDS often is missed until the patient presents with a life-threatening complication such as spontaneous arterial rupture or bowel perforation. We report a 16-year-old male who had recurrent right thigh hematoma after simple exercise and minor trauma, respectively. He had a history of surgery due to spontaneous colon perforation at his age of 11 years. Gene test of COL3A1 revealed a novel mutation c.2931+dupT.
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KEYWORD
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Ehlers-Danlos syndrome type IV, collagen type III, COL3A1
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