EDA基因新剪切突变导致X连锁少汗性外胚层发育不良
网络出版日期: 2017-03-30
基金资助
国家重点基础研究发展计划（973计划）（2012CB96603）；上海市新兴前沿技术项目（SHDC12015122）
Novel EDA gene splicing mutation in a X-linked hypohidrotic ectodermal dysplasia family
1. Department of Andrology/Pelvic Floor Dysfunction, Department of Assisted Reproductive Technology, Institute of Urology Center for Men's Health, Urologic Medical Center, Shanghai General Hospital, Shanghai Key Lab of Reproductive Medicine, Shanghai Jiao Tong University, Shanghai 200080, China; 2. Department of Urology, Pudong New-area Traditional Chinese Medicine Hospital, Shanghai 201299, China; 3. State Key Lab of Oncogenes and Related Genes, Renji-Med X Clinical Stem Cell Research Center, Renji Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai 200127, China
Online published: 2017-03-30
Supported by
National Key Basic Research Program of China, 973 Program, 2012CB96603; Frontier Technology Project of Shanghai, SHDC12015122
目的 ·检测一X连锁少汗性外胚层发育不良家系EDA基因突变位点。方法 ·提取先证者及其家系共13位成员外周血基因组DNA，PCR扩增EDA基因编码区的8个外显子及其2端侧翼序列并测序，明确突变位点。结果 ·先证者及其患病哥哥EDA基因6号内含子剪切供体发生T>A突变，而家系无其他外胚层发育不良临床表现成员，均无该位点突变。结论 ·该家系中IVS 6+2T>A (g.69250372, Xq22.3)突变为剪切致病突变，属国内外首报，是X连锁少汗性外胚层发育不良的新致病突变。该突变可用于遗传咨询和产前诊断，减少出生缺陷。
关键词： X 连锁少汗性外胚层发育不良; 基因突变; EDA基因
顾本宏 , 朱晓斌 , 朱子珏 , 田汝辉 , 李朋 , 智二磊 , 姚晨成 , 王洪 , 陈慧兴 , 万众 , 黄煜华 , 何祖平 , 李铮 . EDA基因新剪切突变导致X连锁少汗性外胚层发育不良[J]. 上海交通大学学报（医学版）, 2017 , 37(3) : 288 . DOI: 10.3969/j.issn.1674-8115.2017.03.003
Objective · To detect the EDA mutation in an X-linked hypohidrotic ectodermal dysplasia (XHED) family. Methods · Genomic DNA of 13 members in this family was extracted and the sequence of 8 exons and exon–intron boundaries of EDA gene were amplified by PCR. The PCR products were sequenced directly to identify the mutation site. Results · A splicing site donor mutation, IVS (intronic variations of sequence) 6+2T>A (g.69250372, Xq22.3), was identified in the proband and his elder brother who had the same clinical signs．No similar clinical features or mutation at the same site were found in other 11 members. Conclusion · The splicing site aberration, IVS 6+2 T>A (g.69250372, Xq22.3), is a novel mutation which causes XHED in this pedigree. To date, this mutation has never been reported previously. Analysis of the mutation allows for genetic counseling and prenatal diagnosis, and contribute to control birth defects.
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