Hereditary hemorrhagic telangiectasia: ENG and ALK-1 mutations in Dutch patients
| Autor: | Dick Lindhout, G.H. de Haas, Tom G.W. Letteboer, C.J.J. Westermann, E. J. Kamping, F. A. M. Hennekam, R. J. Snijder, J.K. Ploos van Amstel, R. A. Zewald, J J Mager |
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| Rok vydání: | 2004 |
| Předmět: |
Activin Receptors
Type II DNA Mutational Analysis Molecular Sequence Data Population Vascular Cell Adhesion Molecule-1 Receptors Cell Surface Telangiectases Biology medicine.disease_cause Antigens CD hemic and lymphatic diseases Genetics medicine Humans Missense mutation Amino Acid Sequence education Gene Genetics (clinical) Netherlands education.field_of_study Mutation Splice site mutation Endoglin ACVRL1 Telangiectasia Hereditary Hemorrhagic Activin Receptors Type I Sequence Alignment |
| Zdroj: | Human Genetics. 116:8-16 |
| ISSN: | 1432-1203 0340-6717 |
| DOI: | 10.1007/s00439-004-1196-5 |
| Popis: | Hereditary hemorrhagic telangiectasia (HHT) or Rendu-Osler-Weber disease is an autosomal dominant disorder characterized by an aberrant vascular development. The resulting vascular lesions range from smaller mucocutaneous telangiectases to large visceral arteriovenous malformations, especially in the skin, lung, gastrointestinal tract and the brain. Mutations in the genes encoding endoglin (ENG, chromosome 9q34) and activin A receptor type-like kinase 1 (ALK-1, also named ACVRL1, chromosome 12q13) are associated with HHT1 and HHT2, respectively. We report here on the genetic and molecular heterogeneity found in the HHT population in the Netherlands. Probands of 104 apparently unrelated families were studied and we performed sequence analysis on both the ENG gene and ALK-1 gene. In most of the probands, we found a mutation in one of the two genes: 53% in the ENG gene and 40% in the ALK-1 gene. In 7% of the families no ENG or ALK1 mutation was found. The mutations detected were deletions, insertions, nonsense, missense and splice site mutations. The majority were novel mutations. |
| Databáze: | OpenAIRE |
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