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; Minoru Kanazawa

doi:10.2169/internalmedicine.49.3435

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, Minoru Kanazawa

Author information

Rinako Sadakata
Department of Respiratory Medicine, Saitama Medical University
Atsushi Hatamochi
Department of Dermatology, School of Medicine, Dokkyo Medical University
Keiji Kodama
Department of Respiratory Medicine, Saitama Medical University
Department of General Internal Medicine, Saitama Medical University
Akiko Kaga
Department of Respiratory Medicine, Saitama Medical University
Takefumi Yamaguchi
Department of Respiratory Medicine, Saitama Medical University
Tomoyuki Soma
Department of Respiratory Medicine, Saitama Medical University
Yutaka Usui
Department of Respiratory Medicine, Saitama Medical University
Makoto Nagata
Department of Respiratory Medicine, Saitama Medical University
Akira Ohtake
Department of Pediatrics, Saitama Medical University
Koichi Hagiwara
Department of Respiratory Medicine, Saitama Medical University
Minoru Kanazawa
Department of Respiratory Medicine, Saitama Medical University

Keywords: Ehlers-Danlos syndrome type IV, collagen type III, mutation, Col3A1

JOURNAL OPEN ACCESS

2010 Volume 49 Issue 16 Pages 1797-1800

DOI https://doi.org/10.2169/internalmedicine.49.3435

Details

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.

Corresponding author

Register with J-STAGE for free!