Mutations in the EDA gene are responsible for X-linked hypohidrotic ectodermal dysplasia and hypodontia in Chinese kindreds

Authors

  • Huali Fan,

    1. Key Laboratory for Oral Biomedical Engineering of Ministry of Education, Department of Endodontics, Hospital and School of Stomatology, Wuhan University
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    • *

      These authors contributed equally to the work presented in this article.

  • Xiaoqian Ye,

    1. Key Laboratory for Oral Biomedical Engineering of Ministry of Education, Department of Endodontics, Hospital and School of Stomatology, Wuhan University
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    • *

      These authors contributed equally to the work presented in this article.

  • Lisong Shi,

    1. Key Laboratory of Molecular Biophysics of Ministry of Education, College of Life Science and Technology and Center for Human Genome Research, Huazhong University of Science and Technology
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  • Wei Yin,

    1. Key Laboratory for Oral Biomedical Engineering of Ministry of Education, Department of Endodontics, Hospital and School of Stomatology, Wuhan University
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  • Bo Hua,

    1. Key Laboratory for Oral Biomedical Engineering of Ministry of Education, Department of Endodontics, Hospital and School of Stomatology, Wuhan University
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  • Guangtai Song,

    1. Department of Pediatric Dentistry, Hospital and School of Stomatology, Wuhan University
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  • Bin Shi,

    1. Department of Prosthodontics, Hospital and School of Stomatology, Wuhan University, Wuhan, Hubei, China
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  • Zhuan Bian

    1. Key Laboratory for Oral Biomedical Engineering of Ministry of Education, Department of Endodontics, Hospital and School of Stomatology, Wuhan University
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Zhuan Bian, Key Laboratory for Oral Biomedical Engineering of Ministry of Education, Hospital and School of Stomatology, Wuhan University, Luoyu Road 237, Wuhan, Hubei, China

Telefax: +86–27–87647443
E-mail: bz@whuss.com

Abstract

X-linked hypohidrotic ectodermal dysplasia (XLHED, OMIM 305100) is a rare congenital disorder that results in the defective development of teeth, hair, nails, and eccrine sweat glands. Previous studies found that mutations in the ectodysplasin A (EDA) gene are associated with XLHED. In the present study, we investigated four Chinese families suffering from classical XLHED and investigated two additional families segregating hypodontia in an X-linked recessive manner. Mutations were characterized respectively in the EDA gene in all families, and five of these mutations were found to be novel. Among these mutations, five were missense (c.200A>T, c.463C>T, c.758T>C, c.926T>G, and c.491A>C) and located in the functional domain of EDA, and one was a splice donor site mutation in intron 5 (c.IVS5 + 1G>A), which may result in an alternative transcript derived from a new cryptic splice site. Our data further confirm that EDA mutations could cause both XLHED and isolated hypodontia and provide evidence that EDA is a strong candidate gene for tooth genesis.

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