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Novel EDA gene splicing mutation in a X-linked hypohidrotic ectodermal dysplasia family

GU Ben-hong1,2, ZHU Xiao-bin1, ZHU Zi-jue1, TIAN Ru-hui1, LI Peng1, ZHI Er-lei1, YAO Chen-cheng1, WANG Hong3, CHEN Hui-xing1, WAN Zhong1, HUANG Yuhua1, HE Zu-ping3, LI Zheng1   

  1. 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:2017-03-28 Published:2017-03-30
  • Supported by:

    National Key Basic Research Program of China, 973 Program, 2012CB96603; Frontier Technology Project of Shanghai, SHDC12015122

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Abstract:

 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.

Key words: X-linked hypohidrotic ectodermal dysplasia, mutation, ectodysplasin A gene