title: Ehlers-Danlos syndrome type IV, vascular type, which demonstrated a novel point mutation in the COL3A1 gene.
abstract: 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.
authors: Department of Respiratory Medicine, Saitama Medical University, Saitama, Japan.
authors: Rinako
authors: R
authors: Sadakata
authors: Atsushi
authors: A
authors: Hatamochi
authors: Keiji
authors: K
authors: Kodama
authors: Akiko
authors: A
authors: Kaga
authors: Takefumi
authors: T
authors: Yamaguchi
authors: Tomoyuki
authors: T
authors: Soma
authors: Yutaka
authors: Y
authors: Usui
authors: Makoto
authors: M
authors: Nagata
authors: Akira
authors: A
authors: Ohtake
authors: Koichi
authors: K
authors: Hagiwara
authors: Minoru
authors: M
authors: Kanazawa
mesh_terms: D024061:Collagen Type III / Q000235:genetics*; D004535:Ehlers-Danlos Syndrome / Q000175:diagnosis* / Q000235:genetics*; D006801:Humans; D008297:Male; D017354:Point Mutation / Q000235:genetics*; D055815:Young Adult
chemical_list: C439971:COL3A1 protein, human; D024061:Collagen Type III