• Internal medicine · Jan 2010

    Case Reports

    Ehlers-Danlos syndrome type IV, vascular type, which demonstrated a novel point mutation in the COL3A1 gene.

    • Rinako Sadakata, Atsushi Hatamochi, Keiji Kodama, Akiko Kaga, Takefumi Yamaguchi, Tomoyuki Soma, Yutaka Usui, Makoto Nagata, Akira Ohtake, Koichi Hagiwara, and Minoru Kanazawa.
    • Department of Respiratory Medicine, Saitama Medical University, Saitama, Japan.
    • Intern. Med. 2010 Jan 1;49(16):1797-800.

    AbstractEhlers-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.

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