Ehlers-Danlos syndrome type IV, vascular type, which demonstrated a novel point mutation in the COL3A1 gene.
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.
Sadakata
Rinako
R
Department of Respiratory Medicine, Saitama Medical University, Saitama, Japan.
Hatamochi
Atsushi
A
Kodama
Keiji
K
Kaga
Akiko
A
Yamaguchi
Takefumi
T
Soma
Tomoyuki
T
Usui
Yutaka
Y
Nagata
Makoto
M
Ohtake
Akira
A
Hagiwara
Koichi
K
Kanazawa
Minoru
M
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
C439971:COL3A1 protein, human; D024061:Collagen Type III