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

Juha Kere; Anand K. Srivastava; Outi Montonen; Jonathan Zonana; Nick Thomas; Betsy Ferguson; Felix Munoz; Delyth Morgan; Angus Clarke; Primo Baybayan; Ellson Y. Chen; Sini Ezer; Ulpu Saarialho-Kere; Albert De La Chapelle; David Schlessinger

doi:10.1038/ng0895-409

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

Juha Kere, Anand K. Srivastava, Outi Montonen, Jonathan Zonana, Nick Thomas, Betsy Ferguson, Felix Munoz, Delyth Morgan, Angus Clarke, Primo Baybayan, Ellson Y. Chen, Sini Ezer, Ulpu Saarialho-Kere, Albert De La Chapelle, David Schlessinger

Molecular and Medical Genetics

Research output: Contribution to journal › Article › peer-review

618 Scopus citations

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.

Original language	English (US)
Pages (from-to)	409-416
Number of pages	8
Journal	Nature genetics
Volume	13
Issue number	4
DOIs	https://doi.org/10.1038/ng0895-409
State	Published - Aug 1996

ASJC Scopus subject areas

Genetics

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Kere, J., Srivastava, A. K., Montonen, O., Zonana, J., Thomas, N., Ferguson, B., Munoz, F., Morgan, D., Clarke, A., Baybayan, P., Chen, E. Y., Ezer, S., Saarialho-Kere, U., De La Chapelle, A., & Schlessinger, D. (1996). X-linked anhidrotic (hypohidrotic) ectodermal dysplasia is caused by mutation in a novel transmembrane protein. Nature genetics, 13(4), 409-416. https://doi.org/10.1038/ng0895-409

Kere, J, Srivastava, AK, Montonen, O, Zonana, J, Thomas, N, Ferguson, B, Munoz, F, Morgan, D, Clarke, A, Baybayan, P, Chen, EY, Ezer, S, Saarialho-Kere, U, De La Chapelle, A & Schlessinger, D 1996, 'X-linked anhidrotic (hypohidrotic) ectodermal dysplasia is caused by mutation in a novel transmembrane protein', Nature genetics, vol. 13, no. 4, pp. 409-416. https://doi.org/10.1038/ng0895-409

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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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AU - Zonana, Jonathan

AU - Thomas, Nick

AU - Ferguson, Betsy

AU - Munoz, Felix

AU - Morgan, Delyth

AU - Clarke, Angus

AU - Baybayan, Primo

AU - Chen, Ellson Y.

AU - Ezer, Sini

AU - Saarialho-Kere, Ulpu

AU - De La Chapelle, Albert

AU - Schlessinger, David

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

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