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

2001; Wiley; Volume: 17; Issue: 4 Linguagem: Inglês

10.1002/humu.33

1098-1004

Kati Pääkkönen, Stefano Cambiaghi, Giuseppe Novelli, Lizbeth V. Ouzts, Maila Penttinen, Juha Kere, Anand K. Srivastava,

Wnt/β-catenin signaling in development and cancer

Human MutationVolume 17, Issue 4 p. 349-349 Mutation in BriefFree Access The mutation spectrum of the EDA gene in X-linked anhidrotic ectodermal dysplasia Kati Pääkkönen, Kati Pääkkönen Department of Medical Genetics, Haartman Institute, PO Box 21, University of Helsinki, FIN-00014 Helsinki, FinlandSearch for more papers by this authorStefano Cambiaghi, Stefano Cambiaghi Istituto di Scienze Dermatologiche, IRCCS Ospedale Policlinico e Universitá di Milano, Milano, ItalySearch for more papers by this authorGiuseppe Novelli, Giuseppe Novelli Department of Biopathology and Diagnostic Imaging, Tor Vergata University of Rome, Via Di Tor Vergata 135, 00133 Rome, ItalySearch for more papers by this authorLizbeth V. Ouzts, Lizbeth V. Ouzts J.C. Self Research Institute of Human Genetics, Greenwood Genetic Center, 1 Gregor Mendel Circle, Greenwood, SC 29646, USASearch for more papers by this authorMaila Penttinen, Maila Penttinen Clinical Genetics Unit, Turku University Central Hospital, PO Box 53 FIN-20521, Turku, FinlandSearch for more papers by this authorJuha Kere, Corresponding Author Juha Kere juha.kere@helsinki.fi Finnish Genome Center, PO Box 21, University of Helsinki, FIN-00014 Helsinki, FinlandFinnish Genome Center, PO Box 21, University of Helsinki, FIN-00014 Helsinki, Finland; Tel: +358 9 1912 6538; Fax: +358 9 1912 6789Search for more papers by this authorAnand K. Srivastava, Anand K. Srivastava J.C. Self Research Institute of Human Genetics, Greenwood Genetic Center, 1 Gregor Mendel Circle, Greenwood, SC 29646, USASearch for more papers by this author Kati Pääkkönen, Kati Pääkkönen Department of Medical Genetics, Haartman Institute, PO Box 21, University of Helsinki, FIN-00014 Helsinki, FinlandSearch for more papers by this authorStefano Cambiaghi, Stefano Cambiaghi Istituto di Scienze Dermatologiche, IRCCS Ospedale Policlinico e Universitá di Milano, Milano, ItalySearch for more papers by this authorGiuseppe Novelli, Giuseppe Novelli Department of Biopathology and Diagnostic Imaging, Tor Vergata University of Rome, Via Di Tor Vergata 135, 00133 Rome, ItalySearch for more papers by this authorLizbeth V. Ouzts, Lizbeth V. Ouzts J.C. Self Research Institute of Human Genetics, Greenwood Genetic Center, 1 Gregor Mendel Circle, Greenwood, SC 29646, USASearch for more papers by this authorMaila Penttinen, Maila Penttinen Clinical Genetics Unit, Turku University Central Hospital, PO Box 53 FIN-20521, Turku, FinlandSearch for more papers by this authorJuha Kere, Corresponding Author Juha Kere juha.kere@helsinki.fi Finnish Genome Center, PO Box 21, University of Helsinki, FIN-00014 Helsinki, FinlandFinnish Genome Center, PO Box 21, University of Helsinki, FIN-00014 Helsinki, Finland; Tel: +358 9 1912 6538; Fax: +358 9 1912 6789Search for more papers by this authorAnand K. Srivastava, Anand K. Srivastava J.C. Self Research Institute of Human Genetics, Greenwood Genetic Center, 1 Gregor Mendel Circle, Greenwood, SC 29646, USASearch for more papers by this author First published: 02 April 2001 https://doi.org/10.1002/humu.33Citations: 45 Communicated by Uta Francke Online Citation: Human Mutation, Mutation in Brief #404 (2001) Online http://journals.wiley.com/1059-7794/pdf/mutation/404.pdf AboutPDF ToolsRequest permissionExport citationAdd to favoritesTrack citation ShareShare Give accessShare full text accessShare full-text accessPlease review our Terms and Conditions of Use and check box below to share full-text version of article.I have read and accept the Wiley Online Library Terms and Conditions of UseShareable LinkUse the link below to share a full-text version of this article with your friends and colleagues. Learn more.Copy URL Share a linkShare onFacebookTwitterLinked InRedditWechat 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. © 2001 Wiley-Liss, Inc. Citing Literature Volume17, Issue4Special Issue: SNP 2000: Third International Meeting on Single Nucleotide Polymorphism and Complex Genome AnalysisApril 2001Pages 349-349 RelatedInformation