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Ehlers‐Danlos syndrome, vascular type: A novel missense mutation in the COL3A1 gene
Author(s) -
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
Publication year - 2012
Publication title -
congenital anomalies
Language(s) - English
Resource type - Journals
eISSN - 1741-4520
pISSN - 0914-3505
DOI - 10.1111/j.1741-4520.2011.00353.x
Subject(s) - medicine , missense mutation , ehlers–danlos syndrome , anatomy , hypoplasia , exon , pathology , gene , mutation , biology , genetics
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.