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 language | English |
|---|---|
| Pages (from-to) | 349 |
| Number of pages | 1 |
| Journal | Human Mutation |
| Volume | 17 |
| Issue number | 4 |
| Publication status | Published - Apr 2001 |
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ASJC Scopus subject areas
- Genetics
- Genetics(clinical)
Cite this
The mutation spectrum of the EDA gene in X-linked anhidrotic ectodermal dysplasia. / Pääkkönen, K.; Cambiaghi, S.; Novelli, G.; Ouzts, L. V.; Penttinen, M.; Kere, J.; Srivastava, A. K.
In: Human Mutation, Vol. 17, No. 4, 04.2001, p. 349.Research output: Contribution to journal › Article
}
TY - JOUR
T1 - The mutation spectrum of the EDA gene in X-linked anhidrotic ectodermal dysplasia.
AU - Pääkkönen, K.
AU - Cambiaghi, S.
AU - Novelli, G.
AU - Ouzts, L. V.
AU - Penttinen, M.
AU - Kere, J.
AU - Srivastava, A. K.
PY - 2001/4
Y1 - 2001/4
N2 - 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.
AB - 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.
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UR - http://www.scopus.com/inward/citedby.url?scp=0035320883&partnerID=8YFLogxK
M3 - Article
C2 - 11295832
AN - SCOPUS:0035320883
VL - 17
SP - 349
JO - Human Mutation
JF - Human Mutation
SN - 1059-7794
IS - 4
ER -