<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

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