TY - JOUR
T1 - Ehlers-Danlos syndrome, vascular type
T2 - A novel missense mutation in the COL3A1 gene
AU - Masuno, Mitsuo
AU - Watanabe, Atsushi
AU - Naing, Banyar Than
AU - Shimada, Takashi
AU - Fujimoto, Wataru
AU - Ninomiya, Shinsuke
AU - Ueda, Yasunori
AU - Kadota, Kazushige
AU - Kotaka, Tatsuya
AU - Kondo, Eisei
AU - Yamanouchi, Yasuko
AU - Inoue, Mika
AU - Ouchi, Kazunobu
AU - Kuroki, Yoshikazu
PY - 2012/12
Y1 - 2012/12
N2 - 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.
AB - 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.
KW - COL3A1
KW - Ehlers-Danlos syndrome
KW - High-resolution melting curve analysis
KW - Novel missense mutation
KW - Vascular type
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U2 - 10.1111/j.1741-4520.2011.00353.x
DO - 10.1111/j.1741-4520.2011.00353.x
M3 - Article
C2 - 23181496
AN - SCOPUS:84870195959
SN - 0914-3505
VL - 52
SP - 207
EP - 210
JO - Congenital Anomalies
JF - Congenital Anomalies
IS - 4
ER -