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X–linked anhidrotic (hypohidrotic) ectodermal dysplasia is caused by mutation in a novel transmembrane protein

Nature Genetics volume 13, pages 409–416 (1996)Cite this article

Abstract

Ectodermal dysplasias comprise over 150 syndromes of unknown pathogenesis. X–linked anhidrotic ectodermal dysplasia (EDA) is characterized by abnormal hair, teeth and sweat glands. We now describe the positional cloning of the gene mutated in EDA. Two exons, separated by a 200–kilobase intron, encode a predicted 135–residue transmembrane protein. The gene is disrupted in six patients with X;autosome translocations or submicroscopic deletions; nine patients had point mutations. The gene is expressed in keratinocytes, hair follicles, and sweat glands, and in other adult and fetal tissues. The predicted EDA protein may belong to a novel class with a role in epithelial–mesenchymal signalling.

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Author information

Author notes

  1. Anand K. Srivastava

    Present address: J.C. Self Research Institute of Human Genetics, Greenwood Genetic Center, Greenwood, South Carolina, 29646, USA

  2. Juha Kere and Anand K. Srivastava: J.K. & A.K.S. contributed equally to this work

Authors and Affiliations

  1. Department of Medical Genetics, Haartman Institute, University of Helsinki, PO Box21, 00014, Finland

    Juha Kere, Outi Montonen, Sini Ezer, Ulpu Saarialho-Kere & Albert de la Chapelle

  2. Department of Molecular Microbiology, Washington University School of Medicine, Box 8230, St. Louis, Missouri, 63110, USA

    Anand K. Srivastava & David Schlessinger

  3. Department of Molecular and Medical Genetics, Oregon Health Sciences University, Portland, Oregon, 97201, USA

    Jonathan Zonana, Betsy Ferguson & Felix Munoz

  4. Institute of Medical Genetics, University of Wales College of Medicine, Cardiff, CF4 4XN, UK

    Nick Thomas, Delyth Morgan & Angus Clarke

  5. Applied Biosystems Division, Advanced Center for Genetic Technology, Foster City, California, 94404, USA

    Primo Baybayan & Ellson Y. Chen

  6. Department of Dermatology, Helsinki University Central Hospital, 00250, Helsinki, Finland

    Ulpu Saarialho-Kere

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Kere, J., Srivastava, A., Montonen, O. et al. X–linked anhidrotic (hypohidrotic) ectodermal dysplasia is caused by mutation in a novel transmembrane protein. Nat Genet 13, 409–416 (1996). https://doi.org/10.1038/ng0895-409

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  • DOI: https://doi.org/10.1038/ng0895-409

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