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The mutation spectrum of the EDA gene in X‐linked anhidrotic ectodermal dysplasia
Author(s) -
Pääkkönen Kati,
Cambiaghi Stefano,
Novelli Giuseppe,
Ouzts Lizbeth V.,
Penttinen Maila,
Kere Juha,
Srivastava Anand K.
Publication year - 2001
Publication title -
human mutation
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.981
H-Index - 162
eISSN - 1098-1004
pISSN - 1059-7794
DOI - 10.1002/humu.33
Subject(s) - biology , ectodermal dysplasia , genetics , intron , exon , missense mutation , rna splicing , nonsense mutation , gene , mutation , microbiology and biotechnology , rna
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. © 2001 Wiley‐Liss, Inc.