The mutation spectrum of the EDA gene in X-linked anhidrotic ectodermal dysplasia: Mutations in Brief
Open accessAbstract
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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X-linked HED caused by mutations in the human EDA gene represents the majority of cases of this disease.
“X-linked HED caused by mutations in the human EDA gene represents the majority of cases of this disease [43],[45].”
From Zebrafish eda and edar Mutants Reveal Conserved and Ancestral Roles of Ectodysplasin Signaling in Vertebrates (2008) · cites this paper as [45]
The Introduction (page unavailable) identifies X-linked HED as the most common form of ectodermal dysplasia and links it to the EDA gene. It does not establish that the X-linked form accounts for a majority of HED cases; 'most common' does not necessarily mean more than half. (LLM, conf=0.83)
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Cites
Kere, J., Srivastava, A. K., Montonen, O., Zonana, J., Thomas, N., Ferguson, B., Munoz, F., Morgan, D., Clarke, A., Baybayan, P., et al. (1996) · Nature Genetics · doi:10.1038/ng0895-409 · Cited by 749 · see citing works
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Research works printed but not linked: 3
- Ausubel FM, Brent R, Kingston RE, Moore DD, Seidman JG, Smith JA and Struhl K 1999. Current Protocols in Molecular Biology. John Wiley & Sons, Inc., New York
- Monreal AW, Zonana J and Ferguson B. 1998. Identification of a new splice form of the EDA1 gene permits detection of nearly all X-linked hypohidrotic ectodermal dysplasia mutations [published erratum appears in Am J Hum Genet 1998 Oct;63(4):1253-5]. Am J Hum Genet 63: 380-389.
- Pinheiro M and Freire-Maia N. 1994. Ectodermal dysplasias: a clinical classification and a causal review. Am J Med Genet 53: 153-162.
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Harris, M. P., Rohner, N., Schwarz, H., Perathoner, S., Konstantinidis, P., & Nüsslein-Volhard, C. (2008) · PLoS Genetics · doi:10.1371/journal.pgen.1000206 · Cited by 224 · see citing works
- Authors
- Pääkkönen, K., Cambiaghi, S., Novelli, G., Ouzts, L. V., Penttinen, M., Kere, J., & Srivastava, A. K.
- Affiliations
- University of Helsinki (FI)
- University of Milan (IT)
- University of Rome Tor Vergata (IT)
- Greenwood Genetic Center (US)
- Turku University Hospital (FI)
- Corresponding author
- Kere, Juha
- Venue
- Human Mutation
- Publisher
- Hindawi Limited
- Published
- 2001-03-27
- Volume
- 17
- Issue
- 4
- Pages
- 349-349
- ISSN
- 1059-7794 (ISSN-L)
- OpenAlex
- W1997650783
- Cited by
- 73
- References
- 1
- Citations by year
- 2024: 2 · 2023: 3 · 2022: 3 · 2021: 3 · 2020: 2 · 2019: 5 · 2018: 1 · 2017: 1 · 2016: 1 · 2015: 1 · 2014: 1 · 2013: 6 · 2012: 3
- FWCI
- 1.75
- Type
- journal article
- Language
- en
- Open access
- bronze
- doi.org
- Locations
- Human Mutation (publishedVersion)
- PubMed (publishedVersion)
- Funders
- Sigrid Juselius Foundation
- Academy of Finland
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › dental development and anomalies
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic and rare skin diseases.
- Health Sciences › Medicine › Urology › Hair Growth and Disorders
- Keywords
- EDA gene, ectodysplasin, mutation spectrum, novel mutations, splice site mutation, exon 1 deletion, missense mutations, nonsense mutation, proteolytic cleavage sites, collagen-like domain, protein domains
- MeSH terms
- DNA Mutational Analysis, Ectodermal Dysplasia, Exons, Female, Humans, Introns, Genetic Linkage, Male, Membrane Proteins, Mutation, Pedigree, X Chromosome, Alternative Splicing, Protein Structure, Tertiary, Mutation, Missense, Amino Acid Motifs, RNA Splice Sites, Ectodysplasins
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