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 journalArticle

2 Citations (Scopus)

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.

Original languageEnglish
Pages (from-to)207-210
Number of pages4
JournalCongenital Anomalies
Volume52
Issue number4
DOIs
Publication statusPublished - Dec 2012

Fingerprint

Ehlers-Danlos Syndrome
Missense Mutation
Skin
Toe Joint
Tibial Arteries
Genes
Wrist Joint
Joint Instability
Basilar Artery
Ankle Joint
Vertebral Artery
Rough Endoplasmic Reticulum
Magnetic Resonance Angiography
Varicose Veins
Arthralgia
Dizziness
Knee Joint
Freezing
Lower Extremity
Exons

Keywords

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

ASJC Scopus subject areas

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

Cite this

Masuno, M., Watanabe, A., Naing, B. T., Shimada, T., Fujimoto, W., Ninomiya, S., ... Kuroki, Y. (2012). Ehlers-Danlos syndrome, vascular type: A novel missense mutation in the COL3A1 gene. Congenital Anomalies, 52(4), 207-210. https://doi.org/10.1111/j.1741-4520.2011.00353.x

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

In: Congenital Anomalies, Vol. 52, No. 4, 12.2012, p. 207-210.

Research output: Contribution to journalArticle

Masuno, M, Watanabe, A, Naing, BT, Shimada, T, Fujimoto, W, Ninomiya, S, Ueda, Y, Kadota, K, Kotaka, T, Kondo, E, Yamanouchi, Y, Inoue, M, Ouchi, K & Kuroki, Y 2012, 'Ehlers-Danlos syndrome, vascular type: A novel missense mutation in the COL3A1 gene', Congenital Anomalies, vol. 52, no. 4, pp. 207-210. https://doi.org/10.1111/j.1741-4520.2011.00353.x
Masuno M, Watanabe A, Naing BT, Shimada T, Fujimoto W, Ninomiya S et al. Ehlers-Danlos syndrome, vascular type: A novel missense mutation in the COL3A1 gene. Congenital Anomalies. 2012 Dec;52(4):207-210. https://doi.org/10.1111/j.1741-4520.2011.00353.x
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. / Ehlers-Danlos syndrome, vascular type : A novel missense mutation in the COL3A1 gene. In: Congenital Anomalies. 2012 ; Vol. 52, No. 4. pp. 207-210.
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