Mutations inVANGL1Associated with Neural-Tube Defects
| Autor: | Annie Reynolds, Joanne Berghout, Irena Kirillova, John B. Wallingford, Pierre Drapeau, Jonathan R. McDearmid, Zoha Kibar, Elena Torban, Melissa Mathieu, Patrizia De Marco, Julie M. Hayes, Elisa Merello, Philippe Gros, Valeria Capra |
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| Rok vydání: | 2007 |
| Předmět: |
Adult
Male Adolescent DNA Mutational Analysis Molecular Sequence Data Dishevelled Proteins Mutation Missense Disease medicine.disease_cause Risk Factors Anencephaly medicine Humans Amino Acid Sequence Neural Tube Defects Risk factor Child Gene Adaptor Proteins Signal Transducing Genetics Mutation Neural tube defect business.industry Spina bifida Intracellular Signaling Peptides and Proteins Neural tube Membrane Proteins General Medicine Phosphoproteins medicine.disease Pedigree medicine.anatomical_structure Italy Female Carrier Proteins business Sequence Alignment |
| Zdroj: | New England Journal of Medicine. 356:1432-1437 |
| ISSN: | 1533-4406 0028-4793 |
| Popis: | Neural-tube defects such as anencephaly and spina bifida constitute a group of common congenital malformations caused by complex genetic and environmental factors. We have identified three mutations in the VANGL1 gene in patients with familial types (V239I and R274Q) and a sporadic type (M328T) of the disease, including a spontaneous mutation (V239I) appearing in a familial setting. In a protein-protein interaction assay V239I abolished interaction of VANGL1 protein with its binding partners, disheveled-1, -2, and -3. These findings implicate VANGL1 as a risk factor in human neural-tube defects. |
| Databáze: | OpenAIRE |
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