Mutations in the activin receptor-like kinase 1 gene in hereditary haemorrhagic telangiectasia type 2.
Nat Genet
; 13(2): 189-95, 1996 Jun.
Article
en En
| MEDLINE
| ID: mdl-8640225
ABSTRACT
Hereditary haemorrhagic telangiectasia, or Osler-Rendu-Weber (ORW) syndrome, is an autosomal dominant vascular dysplasia. So far, two loci have been demonstrated for ORW. Linkage studies established an ORW locus at chromosome 9q3; endoglin was subsequently identified as the ORW1 gene. A second locus, designated ORW2, was mapped to chromosome 12. Here we report a new 4 cM interval for ORW2 that does not overlap with any previously defined. A 1.38-Mb YAC contig spans the entire interval. It includes the activin receptor like kinase 1 gene (ACVRLK1 or ALK1), a member of the serine-threonine kinase receptor family expressed in endothelium. We report three mutations in the coding sequence of the ALK1 gene in those families which show linkage of the ORW phenotype to chromosome 12. Our data suggest a critical role for ALK1 in the control of blood vessel development or repair.
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Banco de datos:
MEDLINE
Asunto principal:
Telangiectasia Hemorrágica Hereditaria
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Cromosomas Humanos Par 12
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Proteínas Serina-Treonina Quinasas
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Mutación
Límite:
Female
/
Humans
/
Male
Idioma:
En
Revista:
Nat Genet
Asunto de la revista:
GENETICA MEDICA
Año:
1996
Tipo del documento:
Article
País de afiliación:
Estados Unidos