Ehlers-Danlos Syndrome Type IV, Vascular Type, Which Demonstrated a Novel Point Mutation in the COL3A1 Gene

• Sadakata Rinako

  Department of Respiratory Medicine, Saitama Medical University

• Hatamochi Atsushi

  Department of Dermatology, School of Medicine, Dokkyo Medical University

• Kodama Keiji

  Department of Respiratory Medicine, Saitama Medical University Department of General Internal Medicine, Saitama Medical University

• Kaga Akiko

  Department of Respiratory Medicine, Saitama Medical University

• Yamaguchi Takefumi

  Department of Respiratory Medicine, Saitama Medical University

• Soma Tomoyuki

  Department of Respiratory Medicine, Saitama Medical University

• Usui Yutaka

  Department of Respiratory Medicine, Saitama Medical University

• Nagata Makoto

  Department of Respiratory Medicine, Saitama Medical University

• Ohtake Akira

  Department of Pediatrics, Saitama Medical University

• Hagiwara Koichi

  Department of Respiratory Medicine, Saitama Medical University

• Kanazawa Minoru

  Department of Respiratory Medicine, Saitama Medical University

Bibliographic Information

Other Title

• A case of Ehlers-Danlos syndrome type IV, vascular type, demonstrated a newly recognized 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.<br>

Journal

• Internal Medicine

  Internal Medicine 49 (16), 1797-1800, 2010

  The Japanese Society of Internal Medicine

Keywords

• Ehlers-Danlos syndrome type IV
• collagen type III
• mutation
• Col3A1

Details

• CRID: 1390282679847262464
• NII Article ID: 130000299646
• DOI: 10.2169/internalmedicine.49.3435
• ISSN: 13497235
• ISSN: 09182918
• Web Site: http://www.jstage.jst.go.jp/article/internalmedicine/49/16/49_16_1797/_pdf
• Web Site: https://search.jamas.or.jp/link/ui/2011066491
• Text Lang: en
• Data Source:
  • JaLC
  • Crossref
  • CiNii Articles
  • KAKEN
• Abstract License Flag: Disallowed