Genetic aspects of vascular type of Ehlers-Danlos syndrome (vEDS, EDSIV) in Japan

DOI Web Site PubMed 被引用文献14件 参考文献26件 オープンアクセス
  • Watanabe Atsushi
    Division of Clinical Genetics, Nippon Medical School Main Hospital Department of Biochemistry and Molecular Biology, Nippon Medical School
  • Kosho Tomoki
    Division of Clinical and Molecular Genetics, Shinsyu University Hospital
  • Wada Takahiro
    Division of Clinical and Molecular Genetics, Shinsyu University Hospital
  • Sakai Noriyasu
    Department of Biochemistry and Molecular Biology, Nippon Medical School
  • Fujimoto Mitsuo
    Department of Dermatology, Jichi Medical School
  • Fukushima Yoshimitsu
    Division of Clinical and Molecular Genetics, Shinsyu University Hospital
  • Shimada Takashi
    Division of Clinical Genetics, Nippon Medical School Main Hospital Department of Biochemistry and Molecular Biology, Nippon Medical School

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タイトル別名
  • Genetic Aspects of the Vascular Type of Ehlers-Danlos Syndrome (vEDS, EDSIV) in Japan

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Background The vascular type of Ehlers-Danlos syndrome (vEDS, EDS type IV; MIM#130050) is an autosomal dominantly inherited disorder that results from mutations in the genes for type III procollagen (COL3A1). Affected individuals with vEDS are at risk of arterial rupture, aneurysm, and/or dissection; gastrointestinal perforation or rupture; and uterine rupture during pregnancy, which may lead to sudden death. Methods and Results Three unrelated Japanese individuals who exhibited symptoms of vEDS were analyzed. In order to identify mutations in the patients' RNA, one 3.8-kb reverse transcriptase polymerase chain reaction product containing the triple-helical domain of COL3A1 was prepared from cultured skin fibroblasts and then was sequenced directly. Three heterozygous mutations were identified; specifically, 2 novel missense base substitutions (Gly220Trp, Gly448Glu) in the (Gly-X-Y)n repeat of the triple-helical domain and a known splicing donor mutation of intron 20 (G+1, IVS20) of COL3A1. The genotype-phenotype correlations in Japanese vEDS individuals with COL3A1 mutations were also investigated. Conclusion There was no association between the type of complications in vEDS and the related COL3A1 mutation found. After the genetic diagnosis of COL3A1, the establishment of both a network among medical specialists, including clinical geneticists to perform genetic counseling, and long-term follow-up systems of vEDS may help to improve the management of vascular and visceral complications. (Circ J 2007; 71: 261 - 265)<br>

収録刊行物

  • Circulation Journal

    Circulation Journal 71 (2), 261-265, 2007

    一般社団法人 日本循環器学会

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