1. ¹Center for Human Genome Research, Huazhong University of Science and Technology, Wuhan, Hubei 430074, China
2. ²Department of Dermatology, Union Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, Hubei 430022, China
3. ³College of Life Science and Technology, Huazhong University of Science and Technology, Wuhan, Hubei 430074, China
4. ⁴Institute of Forensic Science and Technology, Bureau of Hubei Public Security, Wuhan, Hubei 430070, China
5. ⁵Department of Molecular Cardiology, Lerner Research Institute, Cleveland Clinic, Cleveland, OH 44195, USA

Correspondence: Qing K Wang, Center for Human Genome Research, Huazhong University of Science and Technology, Wuhan, Hubei 430074, China. E-mail: qkwang@mail.hust.edu.cn; Mugen Liu, Center for Human Genome Research, Huazhong University of Science and Technology, Wuhan, Hubei 430074, China. E-mail: lium@mail.hust.edu.cn

^*Changzheng Huang and Qinbo Yang contribute equally to this work.

Received 3 August 2006; Accepted 1 September 2006; Published online 26 October 2006.

Abstract

Hypohidrotic ectodermal dysplasia (HED) is characterized by severe hypohidrosis, hypotrichosis, and hypodontia. It can be inherited in autosomal dominant, autosomal recessive, or X-linked patterns. Mutations in the EDA gene, which encodes ectodysplasin-A, are responsible for X-linked HED (XLHED). In the present study, we identified a Chinese Han family with XLHED. Direct DNA sequence analysis of the entire coding region and exon-intron boundaries of EDA identified a novel de novo mutation, c.573_574insT, in two affected males and one carrier female. Restriction fragment length polymorphism (RFLP) analysis showed that the mutation was not present in 200 controls. The 1-bp insertion mutation resulted in a frameshift, which causes premature termination of EDA polypeptide and truncation of the EDA protein. These results suggest that the c.573_574insT mutation of the EDA gene is a cause for XLHED in the family. To the best of our knowledge, this is the first de novo insertion mutation of EDA described for XLHED.