title: Ehlers-Danlos syndrome, vascular type: a novel missense mutation in the COL3A1 gene.
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.
authors.affiliation: Department of Pediatrics,Kawasaki Medical School, Kurashiki, Japan. m-masuno@mw.kawasaki-m.ac.jp
authors.forename: Mitsuo
authors.initials: M
authors.lastname: Masuno
authors.forename: Atsushi
authors.initials: A
authors.lastname: Watanabe
authors.forename: Banyar Than
authors.initials: BT
authors.lastname: Naing
authors.forename: Takashi
authors.initials: T
authors.lastname: Shimada
authors.forename: Wataru
authors.initials: W
authors.lastname: Fujimoto
authors.forename: Shinsuke
authors.initials: S
authors.lastname: Ninomiya
authors.forename: Yasunori
authors.initials: Y
authors.lastname: Ueda
authors.forename: Kazushige
authors.initials: K
authors.lastname: Kadota
authors.forename: Tatsuya
authors.initials: T
authors.lastname: Kotaka
authors.forename: Eisei
authors.initials: E
authors.lastname: Kondo
authors.forename: Yasuko
authors.initials: Y
authors.lastname: Yamanouchi
authors.forename: Mika
authors.initials: M
authors.lastname: Inoue
authors.forename: Kazunobu
authors.initials: K
authors.lastname: Ouchi
authors.forename: Yoshikazu
authors.initials: Y
authors.lastname: Kuroki
mesh_terms: D000328:Adult; D000595:Amino Acid Sequence; D001483:Base Sequence; D002533:Cerebral Angiography; D024061:Collagen Type III / Q000235:genetics*; D004535:Ehlers-Danlos Syndrome / Q000175:diagnosis / Q000235:genetics*; D005091:Exons; D005260:Female; D006801:Humans; D018810:Magnetic Resonance Angiography; D008969:Molecular Sequence Data; D020125:Mutation, Missense; D012867:Skin / Q000473:pathology / Q000648:ultrastructure
chemical_list: C439971:COL3A1 protein, human; D024061:Collagen Type III