The mutation spectrum of the EDA gene in X-linked anhidrotic ectodermal dysplasia.

K. Pääkkönen, S. Cambiaghi, G. Novelli, L. V. Ouzts, M. Penttinen, J. Kere, A. K. Srivastava

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Abstract

Mutations in ectodysplasin, the protein product of the EDA or ED1 gene, cause X-linked anhidrotic ectodermal dysplasia. From sixteen families we have identified thirteen mutations, of which nine were novel: a deletion of the entire exon 1, altered splicing site in intron 7 (IVS-2A-->G) and in intron 9 (IVS9+8 C-->G), deletion of 8 bp (1967-1974 nt), four missense mutations (G255C, G255D, W274G, C332Y) and nonsense mutation W274X. Previously identified and the novel mutations form four clusters: 1) at the junction of the transmembrane and extracellular domains, 2) at a putative protease recognition site, possibly affecting cleavage of ectodysplasin, 3) at the trimerizing collagen-like domain, and 4) at regions of high homology to tumor necrosis factor domains. Truncating and splice site mutations occur within the proximal two-thirds of the protein. Our data suggest the functional importance of specific ectodysplasin domains. Hum Mutat 17:349, 2001.

Original languageEnglish
Pages (from-to)349
Number of pages1
JournalHuman Mutation
Volume17
Issue number4
Publication statusPublished - Apr 2001

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ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

Cite this

Pääkkönen, K., Cambiaghi, S., Novelli, G., Ouzts, L. V., Penttinen, M., Kere, J., & Srivastava, A. K. (2001). The mutation spectrum of the EDA gene in X-linked anhidrotic ectodermal dysplasia. Human Mutation, 17(4), 349.