Ehlers-Danlos Syndrome Type IV, Vascular Type, Which Demonstrated a Novel Point Mutation in the COL3A1 Gene
Ehlers-Danlos Syndrome Type IV, Vascular Type, Which Demonstrated a Novel Point Mutation in the COL3A1 Gene
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DOI：
10.2169/internalmedicine.49.3435
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发表时间：
2010-01-01
影响因子：
1.2
通讯作者：
Kanazawa, Minoru
中科院分区：
文献类型：
--
作者：
Sadakata, Rinako;Hatamochi, Atsushi;Kanazawa, Minoru
Ehlers-Danlos综合征IV型（EDS IV型），血管型，由III型前胶原基因（COL 3A 1）突变引起的常染色体显性疾病，是EDS的最严重形式，通常表现为主动脉出血或器官穿孔。本报告讨论了一个男性病人EDS IV型呼吸困难，由于血气胸。他的皮肤很薄，关节活动过度，经临床证实患有EDS IV型。基因突变c证实了诊断。2528 G>A（p.Gly843Glu）。突变的位置从未被报道过。
Ehlers-Danlos syndrome type IV (EDS type IV), vascular type, an autosomal dominant disorder caused by a mutation of the type III procollagen gene (COL3A1) is the most severe form of EDS and often presents with aortic hemorrhage or organ perforation. This report discusses a male patient with EDS type IV with dyspnea due to hemopneumothorax. He had thin skin and hypermobile joints and was clinically confirmed as having EDS type IV. The diagnosis was genetically confirmed by a mutation c. 2528 G>A (p.Gly843Glu) in the COL3A1 gene. The position of the mutation has never been reported.