EDA遺伝子に変異を認めた無汗型外胚葉異形成症の1例

• Published in: 日本口腔外科学会雑誌 Vol. 59; no. 4; pp. 270 - 274
• Main Authors: 下郷, 和雄, 木村, 将士, 町田, 純一郎, 嘉悦, 淳男, 山口, 聖士, 柴田, 章夫
• Format: Journal Article
• Language: Japanese
• Published: 社団法人 日本口腔外科学会 20.04.2013
• Subjects: EDA遺伝子; 歯牙形成不全; 無汗型外胚葉異形成症
• ISSN: 0021-5163; 2186-1579
• DOI: 10.5794/jjoms.59.270

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.