A case of anhidrotic ectodermal dysplasia with a missense mutation in the <i>EDA</i> gene

DOI Web Site 13 References
  • YAMAGUCHI Seishi
    Department of Maxillofacial Surgery, School of Dentistry, Aichi-Gakuin University
  • MACHIDA Junichiro
    Department of Maxillofacial Surgery, School of Dentistry, Aichi-Gakuin University Department of Oral and Maxillofacial Surgery, Toyota Memorial Hospital
  • KIMURA Masashi
    Department of Maxillofacial Surgery, School of Dentistry, Aichi-Gakuin University
  • SHIBATA Akio
    Department of Maxillofacial Surgery, School of Dentistry, Aichi-Gakuin University
  • KAETSU Atsuo
    Department of Oral and Maxillofacial Surgery, Toyohashi Municipal Hospital
  • SHIMOZATO Kazuo
    Department of Maxillofacial Surgery, School of Dentistry, Aichi-Gakuin University

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Other Title
  • <i>EDA</i>遺伝子に変異を認めた無汗型外胚葉異形成症の1例
  • EDA遺伝子に変異を認めた無汗型外胚葉異形成症の1例
  • EDA イデンシ ニ ヘンイ オ ミトメタ ムカンガタ ガイハイヨウイケイセイショウ ノ 1レイ
  • A case of anhidrotic ectodermal dysplasia with a missense mutation in the EDA gene

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Abstract

Anhidrotic ectodermal dysplasia is rare congenital disorder characterized by hypotrichosis, hypohidrosis, and tooth agenesis. We report on a patient with de novo anhidrotic ectodermal dysplasia who presented with complete absence of primary and permanent teeth. In addition, a misssense mutation leading to an amino acid substitution from arginine to histidine in position 156 of the ectodysplasin A gene, responsible for sex-linked inheritance, was identified. Our results are useful for genetic counseling, and future studies with various types of biological analyses are required to evaluate the activities of the ectodysplasin A gene activity, including other gene-gene interactions.

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