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Mutations in the activin receptor-like kinase 1 gene in hereditary haemorrhagic telangiectasia type 2.

Publication ,  Journal Article
Johnson, DW; Berg, JN; Baldwin, MA; Gallione, CJ; Marondel, I; Yoon, SJ; Stenzel, TT; Speer, M; Pericak-Vance, MA; Diamond, A; Guttmacher, AE ...
Published in: Nat Genet
June 1996
Published version (DOI) Link to item

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.

Duke Scholars

Margaret Ann Pericak-Vance
Author Margaret Ann Pericak-Vance Medicine, Hematology
Douglas Alan Marchuk
Author Douglas Alan Marchuk Molecular Genetics and Microbiology
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Published In

Nat Genet

DOI

10.1038/ng0696-189

ISSN

1061-4036

Publication Date

June 1996

Volume

13

Issue

2

Start / End Page

189 / 195

Location

United States

Related Subject Headings

  • Telangiectasia, Hereditary Hemorrhagic
  • Protein Serine-Threonine Kinases
  • Pedigree
  • Mutation
  • Molecular Sequence Data
  • Male
  • Humans
  • Female
  • Developmental Biology
  • Chromosomes, Human, Pair 12
 

Citation

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Johnson, D. W., Berg, J. N., Baldwin, M. A., Gallione, C. J., Marondel, I., Yoon, S. J., … Marchuk, D. A. (1996). Mutations in the activin receptor-like kinase 1 gene in hereditary haemorrhagic telangiectasia type 2. Nat Genet, 13(2), 189–195. https://doi.org/10.1038/ng0696-189
Johnson, D. W., J. N. Berg, M. A. Baldwin, C. J. Gallione, I. Marondel, S. J. Yoon, T. T. Stenzel, et al. “Mutations in the activin receptor-like kinase 1 gene in hereditary haemorrhagic telangiectasia type 2.” Nat Genet 13, no. 2 (June 1996): 189–95. https://doi.org/10.1038/ng0696-189.
Johnson DW, Berg JN, Baldwin MA, Gallione CJ, Marondel I, Yoon SJ, et al. Mutations in the activin receptor-like kinase 1 gene in hereditary haemorrhagic telangiectasia type 2. Nat Genet. 1996 Jun;13(2):189–95.
Johnson, D. W., et al. “Mutations in the activin receptor-like kinase 1 gene in hereditary haemorrhagic telangiectasia type 2.” Nat Genet, vol. 13, no. 2, June 1996, pp. 189–95. Pubmed, doi:10.1038/ng0696-189.
Johnson DW, Berg JN, Baldwin MA, Gallione CJ, Marondel I, Yoon SJ, Stenzel TT, Speer M, Pericak-Vance MA, Diamond A, Guttmacher AE, Jackson CE, Attisano L, Kucherlapati R, Porteous ME, Marchuk DA. Mutations in the activin receptor-like kinase 1 gene in hereditary haemorrhagic telangiectasia type 2. Nat Genet. 1996 Jun;13(2):189–195.

Published In

Nat Genet

DOI

10.1038/ng0696-189

ISSN

1061-4036

Publication Date

June 1996

Volume

13

Issue

2

Start / End Page

189 / 195

Location

United States

Related Subject Headings

  • Telangiectasia, Hereditary Hemorrhagic
  • Protein Serine-Threonine Kinases
  • Pedigree
  • Mutation
  • Molecular Sequence Data
  • Male
  • Humans
  • Female
  • Developmental Biology
  • Chromosomes, Human, Pair 12