EDA遺伝子に新規変異を同定したX連鎖性低汗性外肺葉形成不全症の1家系

・乏汗症，歯牙欠損，乏毛を呈したX連鎖性低汗性外肺葉形成不全症（hypo- or anhidrotic ectodermal dysplasia：HED）の1家系を経験した．

・EDA遺伝子解析にて確定診断に至った．

・自験例で同定されたsplice site変異c.924＋7A＞Gは新規変異であった．

（「症例のポイント」より）

　

A novel EDA mutation identified in a patient with X-linked hypohidrotic ectodermal dysplasia

　

Mizawa, Megumi1）Makino, Teruhiko1）Shimomura, Yutaka2）Adachi, Yuichi3）Shimizu, Tadamichi1） 1）Department of Dermatology, Graduate School of Medicine and Pharmaceutical Sciences, University of Toyama 2）Department of Dermatology, Yamaguchi University Graduate School of Medicine 3）Department of Pediatrics, Graduate School of Medicine and Pharmaceutical Sciences, University of Toyama

　

A six-month-old Japanese boy presented with recurrent episodes of a high body temperature. He also presented with hypohidrosis, sparse scalp hair and eyebrows, a prominent forehead and a saddle nose. X-ray showed hypodontia. Minor’s starch test showed only slight sweating on his palms. We performed a sequence analysis of the EDA gene using peripheral blood samples after obtaining written informed consent from the patient’s parents. A novel hemizygous splice site mutation c.924＋7A＞G was subsequently detected in intron 7 of the EDA gene. His mother was heterozygous for the mutation. These findings were diagnostic of X-linked recessive hypohidrotic ectodermal dysplasia.