Ehlers‐Danlos syndrome, vascular type: A novel missense mutation in the COL3A1 gene

• Published in: Congenital anomalies Vol. 52; no. 4; pp. 207 - 210
• Main Authors: Masuno, Mitsuo, Watanabe, Atsushi, Naing, Banyar Than, Shimada, Takashi, Fujimoto, Wataru, Ninomiya, Shinsuke, Ueda, Yasunori, Kadota, Kazushige, Kotaka, Tatsuya, Kondo, Eisei, Yamanouchi, Yasuko, Inoue, Mika, Ouchi, Kazunobu, Kuroki, Yoshikazu
• Format: Journal Article
• Language: English; Japanese
• Published: Melbourne, Australia Blackwell Publishing Asia 01.12.2012; Wiley Subscription Services, Inc
• Subjects: Adult; Amino Acid Sequence; Base Sequence; Cerebral Angiography; COL3A1; Collagen Type III - genetics; Ehlers-Danlos Syndrome - diagnosis; Ehlers-Danlos Syndrome - genetics; Ehlers‐Danlos syndrome; Exons; Female; high‐resolution melting curve analysis; Humans; Magnetic Resonance Angiography; Molecular Sequence Data; Mutation; Mutation, Missense; novel missense mutation; Proteins; Skin - pathology; Skin - ultrastructure; vascular type
• ISSN: 0914-3505; 1741-4520
• DOI: 10.1111/j.1741-4520.2011.00353.x

ABSTRACT We report a 34‐year‐old Japanese female with the vascular type of Ehlers‐Danlos syndrome. She had thin translucent skin, extensive bruising, toe joint hypermobility, left lower extremity varicose veins, and chronic wrist, knee and ankle joint pain. She also had dizziness caused by autonomic dysfunction. Magnetic resonance angiography showed tortuous vertebral and basilar arteries, mild left carotid canal bulging, and right anterior tibial artery hypoplasia. Electron microscopic examinations of a skin biopsy revealed extremely dilated rough endoplasmic reticulum in dermal fibroblasts and wide variability of individual collagen fibril diameters. A molecular analysis using a conventional total RNA method and a high‐resolution melting curve analysis using genomic DNA revealed a novel missense mutation within exon 48 of the COL3A1 gene, c.3428G>A, leading to p.Gly1143Glu.