浙江医学2023，Vol.45Issue(24)：2627-2631,2641,6.DOI:10.12056/j.issn.1006-2785.2023.45.24.2023-226
少汗性外胚层发育不良患者基因突变检测分析
Analysis of gene mutations in patients with hypophidrotic ectodermal dysplasia
摘要
Abstract
Objective To detect gene mutations in patients with hypophidrotic ectodermal dysplasia(HED).Methods Thirteen children with HED admitted to Longhua District People's Hospital from September 2018 to December 2022 were inrolled,The peripheral venous blood samples were collected from probands and the genomic DNA was extracted and the coding region of ectodermal dysplasia A(EDA)gene was amplified with PCR;and the EDA gene sequence was detected by Sanger sequencing.The relationship between EDA gene mutations and tooth loss in HED patients was analyzed.Results A total of 8 types of EDA gene mutations were detected and the types of mutations in EDA gene were c.457C＞T(p.Arg153Cys),c.584G＞A(p.Gly195Glu),c.164T＞C(p.Leu55Pro),c.673C＞T(p.Pro225Ser),c.676C＞T(p.Gln226*),c.619deIG(p.Gly207Profs*73),c.905T＞G(p.Phe302Cys)and c.466C＞T(p.Arg156Cys).Ten patients had symmetrical distribution of missing teeth,the mean number of missing teeth was(13.90±4.21),(13.17±3.45)for maxillary teeth and(14.55±3.02)for mandibular teeth.The difference of upper and mandibular teeth of mean absent was not significant(P＞0.05).The loss rate of maxillary lateral incisors and second premolars was 100.00％,which was higher than that of first molars loss rate(55.56％)and incisors loss rate(11.11％).The comparison of the loss rate of the different missing teeth was statistically significant(P＜0.05).The loss rate of mandibular lateral incisors was the highest(100.00％),and the first molar loss rate was the lowest(24.38％).Pathogenicity analysis showed that there were 4 cases of suspected pathogenic variation,5 cases of pathogenic variation and 1 case of possibly benign variation.Conclusion Detection of EDA gene mutations in HED patients can provide reference for genetic diagnosis and prenatal counselling.关键词
外胚层发育不良/基因突变/致病性/诊断Key words
Ectodermal dysplasia/Genetic variation/Pathogenicity/Diagnosis引用本文复制引用
冼雪芳,梁瑞金,李冬梅,吴娟玉,谢尔婷..少汗性外胚层发育不良患者基因突变检测分析[J].浙江医学,2023,45(24):2627-2631,2641,6.基金项目
深圳市龙华区科技创新局项目(2023054) （2023054）
