中华皮肤科杂志 ›› 2022, Vol. 55 ›› Issue (8): 709-712.doi: 10.35541/cjd.20210554

• 研究报道 • 上一篇    下一篇

TP63基因突变导致的不伴指（趾）畸形的ADULT综合征1例

刘依和1    陈志明1    冯素英2    杨勇1   

  1. 1中国医学科学院、北京协和医学院皮肤病医院遗传病中心  江苏省皮肤病与性病学重点实验室，南京  210042；2中国医学科学院、北京协和医学院皮肤病医院皮肤科，南京  210042
  • 收稿日期:2021-08-02 修回日期:2021-12-03 发布日期:2022-08-02
  • 通讯作者: 陈志明 E-mail:zmchen@pumcderm.cams.cn
  • 基金资助:
    国家自然科学基金（81903195）

A case of ADULT syndrome without finger/toe deformities caused by a TP63 mutation

Liu Yihe1, Chen Zhiming1, Feng Suying2, Yang Yong1   

  1. 1Genetic Skin Disease Center, Jiangsu Key Laboratory of Molecular Biology for Skin Diseases and STIs, Hospital of Dermatology, Chinese Academy of Medical Sciences and Peking Union Medical College, Nanjing 210042, China; 2Department of Dermatology, Hospital of Dermatology, Chinese Academy of Medical Sciences and Peking Union Medical College, Nanjing 210042, China
  • Received:2021-08-02 Revised:2021-12-03 Published:2022-08-02
  • Contact: Chen Zhiming E-mail:zmchen@pumcderm.cams.cn
  • Supported by:
    National Natural Science Foundation of China（81903195）

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摘要： 【摘要】 目的 检测1例以外胚层发育不良为主要临床表现的ADULT综合征患者的致病基因。方法 收集先证者临床资料，采集先证者及其父母的外周血，提取基因组DNA，对先证者行遗传性皮肤病目标基因外显子测序，确定候选突变位点，在家系中对该位点行Sanger测序验证。结果 先证者男，22岁，表现为毛发稀疏、变细，颜面部散在雀斑，恒牙缺失，角膜混浊，掌跖红斑、角化，指（趾）甲营养不良，乳头发育不良等。基因检测显示，先证者外周血基因组DNA中TP63基因第8号外显子中存在杂合突变（c.1040G＞T），导致氨基酸序列发生改变（p.C347F），其父母表型正常且未检测到该突变位点，突变与疾病表型符合共分离。结论 TP63基因的新发杂合错义突变是先证者的可能致病突变，结合先证者临床表现，诊断为不伴指（趾）畸形的ADULT综合征。

关键词: 外胚层发育不良症, TP63基因突变, ADULT综合征, 外显不全

Abstract: 【Abstract】 Objective To detect causative gene mutations in 1 patient with ADULT syndrome mainly presenting with ectodermal dysplasia. Methods Clinical data were collected from the proband, and genomic DNA was extracted from peripheral blood samples obtained from the proband and his parents. Exome sequencing was performed in the proband by using targeted panels for hereditary skin diseases to determine mutation sites, and then the candidate mutation sites were verified by Sanger sequencing in the family members. Results The 22-year-old male patient presented with sparse and thin hair, scattered facial freckles, missing permanent teeth, cloudy corneas, palmoplantar erythema and keratosis, nail/toenail dystrophy, and nipple dysplasia. Genetic testing of the peripheral blood genomic DNA of the proband revealed a heterozygous mutation （c.1040G>T） in exon 8 of the TP63 gene, resulting in an amino acid change at position 347 （p.C347F）. The mutation was not detected in his father or mother with normal phenotypes, suggesting the cosegregation of the gene mutation with the disease phenotype in the family. Conclusion The de novo heterozygous missense mutation in the TP63 gene may be the causative mutation in the proband, and combined with clinical manifestations, the proband was diagnosed with ADULT syndrome without finger/toe deformities.

Key words: Ectodermal dysplasia, TP63 mutation, ADULT syndrome, Incomplete penetrance