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Multiple self-healing squamous epithelioma is caused by a disease-specific spectrum of mutations in TGFBR1
- Source :
- Nature genetics, 43(4), 365-U121. Nature Publishing Group, Goudie, D R, D'Alessandro, M, Merriman, B, Lee, H, Szeverényi, I, Avery, S, O'Connor, B D, Nelson, S F, Coats, S E, Stewart, A, Christie, L, Pichert, G, Friedel, J, Hayes, I, Burrows, N, Whittaker, S, Gerdes, A-M, Broesby-Olsen, S, Ferguson-Smith, M A, Verma, C, Lunny, D P, Reversade, B & Lane, E B 2011, ' Multiple self-healing squamous epithelioma is caused by a disease-specific spectrum of mutations in TGFBR1 ', Nature Genetics, vol. 43, no. 4, pp. 365-9 . https://doi.org/10.1038/ng.780
- Publication Year :
- 2011
- Publisher :
- Springer Science and Business Media LLC, 2011.
-
Abstract
- Multiple self-healing squamous epithelioma (MSSE), also known as Ferguson-Smith disease (FSD), is an autosomal-dominant skin cancer condition characterized by multiple squamous-carcinoma-like locally invasive skin tumors that grow rapidly for a few weeks before spontaneously regressing, leaving scars(1,2). High-throughput genomic sequencing of a conservative estimate (24.2 Mb) of the disease locus on chromosome 9 using exon array capture identified independent mutations in TGFBR1 in three unrelated families. Subsequent dideoxy sequencing of TGFBR1 identified 11 distinct monoallelic mutations in 18 affected families, firmly establishing TGFBR1 as the causative gene. The nature of the sequence variants, which include mutations in the extracellular ligand-binding domain and a series of truncating mutations in the kinase domain, indicates a clear genotype-phenotype correlation between loss-of-function TGFBR1 mutations and MSSE. This distinguishes MSSE from the Marfan syndrome-related disorders in which missense mutations in TGFBR1 lead to developmental defects with vascular involvement but no reported predisposition to cancer
- Subjects :
- Male
Models, Molecular
Marfan syndrome
Keratoacanthoma
Skin Neoplasms
Molecular Sequence Data
Receptor, Transforming Growth Factor-beta Type I
Mutation, Missense
Disease
Protein Serine-Threonine Kinases
Biology
Bioinformatics
medicine.disease_cause
Marfan Syndrome
Frameshift mutation
Genetics
medicine
Carcinoma
Humans
Amino Acid Sequence
Frameshift Mutation
Conserved Sequence
Genetic Association Studies
DNA Primers
Mutation
Base Sequence
Sequence Homology, Amino Acid
Haplotype
Protein-Serine-Threonine Kinases
medicine.disease
Protein Structure, Tertiary
Haplotypes
Codon, Nonsense
Cancer research
Female
Mutant Proteins
Skin cancer
Receptors, Transforming Growth Factor beta
Subjects
Details
- ISSN :
- 15461718 and 10614036
- Volume :
- 43
- Database :
- OpenAIRE
- Journal :
- Nature Genetics
- Accession number :
- edsair.doi.dedup.....25864ccf2e774c4fcf7d14160a4e9df2