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

• Published in: Shanghai jiao tong da xue xue bao. Yi xue ban Vol. 37; no. 3
• Main Authors: Gu, Ben-hong, Zhu, Xiao-bin, Zhu, Zi-jue, Tian, Ru-hui, Li, Peng, Zhi, Er-lei, Yao, Chen-cheng, Wang, Hong, Chen, Hui-xing, Wan, Zhong, Huang, Yu-hua, He, Zu-ping, Li, Zheng
• Format: Journal Article
• Language: Chinese
• Published: 01.03.2017
• ISSN: 1674-8115
• DOI: 10.3969/j.issn.1674-8115.2017.03.003

Objective [middot] To detect the EDA mutation in an X-linked hypohidrotic ectodermal dysplasia(XHED) family. Methods [middot] 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 [middot] A splicing site donor mutation, IVS(intronic variations of sequence) 6+2 TA(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 [middot] The splicing site aberration, IVS 6+2 TA(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.