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

Mitsuo Masuno, Atsushi Watanabe, Banyar Than Naing, Takashi Shimada, Wataru Fujimoto, Shinsuke Ninomiya, Yasunori Ueda, Kazushige Kadota, Tatsuya Kotaka, Eisei Kondo, Yasuko Yamanouchi, Mika Inoue, Kazunobu Ouchi, Yoshikazu Kuroki

Research output: Contribution to journalArticlepeer-review

3 Citations (Scopus)


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.

Original languageEnglish
Pages (from-to)207-210
Number of pages4
JournalCongenital Anomalies
Issue number4
Publication statusPublished - Dec 2012
Externally publishedYes


  • COL3A1
  • Ehlers-Danlos syndrome
  • High-resolution melting curve analysis
  • Novel missense mutation
  • Vascular type

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health
  • Embryology
  • Developmental Biology


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