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Mutation and expression analysis of the endoglin gene in hereditary hemorrhagic telangiectasia reveals null alleles.

Publication ,  Journal Article
Gallione, CJ; Klaus, DJ; Yeh, EY; Stenzel, TT; Xue, Y; Anthony, KB; McAllister, KA; Baldwin, MA; Berg, JN; Lux, A; Smith, JD; Vary, CP ...
Published in: Hum Mutat
1998

Hereditary Hemorrhagic Telangiectasia (HHT) is an autosomal dominant disorder characterized by multisystemic vascular dysplasia and recurrent hemorrhage from the sites of vascular lesions. Two genes have been identified for HHT. Endoglin, a TGF-beta binding protein which maps to chromosome 9q3, is the gene for HHT1. The type and location of most of the previously described mutations in the endoglin (ENG) gene suggested a dominant-negative model of receptor-complex dysfunction for the molecular basis of this disorder. In this article we describe 11 novel ENG mutations in HHT kindreds, which include missense and splice-site mutations. Two identical missense mutations in unrelated families disrupt the start codon of the gene. In addition, some frameshift and nonsense mutations lead to very low or undetectable levels of transcript from the mutant allele. These combined data suggest that the nature of most ENG mutations is to create a null (nonfunctional) allele, and that there is no requirement for the synthesis of a truncated endoglin protein in the pathogenesis of HHT.

Duke Scholars

Published In

Hum Mutat

DOI

ISSN

1059-7794

Publication Date

1998

Volume

11

Issue

4

Start / End Page

286 / 294

Location

United States

Related Subject Headings

  • Vascular Cell Adhesion Molecule-1
  • Telangiectasia, Hereditary Hemorrhagic
  • Receptors, Cell Surface
  • Polymerase Chain Reaction
  • Phenotype
  • Mutation
  • Molecular Sequence Data
  • Humans
  • Genetics & Heredity
  • Genetic Linkage
 

Citation

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Gallione, C. J., Klaus, D. J., Yeh, E. Y., Stenzel, T. T., Xue, Y., Anthony, K. B., … Marchuk, D. A. (1998). Mutation and expression analysis of the endoglin gene in hereditary hemorrhagic telangiectasia reveals null alleles. Hum Mutat, 11(4), 286–294. https://doi.org/10.1002/(SICI)1098-1004(1998)11:4<286::AID-HUMU6>3.0.CO;2-B
Gallione, C. J., D. J. Klaus, E. Y. Yeh, T. T. Stenzel, Y. Xue, K. B. Anthony, K. A. McAllister, et al. “Mutation and expression analysis of the endoglin gene in hereditary hemorrhagic telangiectasia reveals null alleles.Hum Mutat 11, no. 4 (1998): 286–94. https://doi.org/10.1002/(SICI)1098-1004(1998)11:4<286::AID-HUMU6>3.0.CO;2-B.
Gallione CJ, Klaus DJ, Yeh EY, Stenzel TT, Xue Y, Anthony KB, et al. Mutation and expression analysis of the endoglin gene in hereditary hemorrhagic telangiectasia reveals null alleles. Hum Mutat. 1998;11(4):286–94.
Gallione, C. J., et al. “Mutation and expression analysis of the endoglin gene in hereditary hemorrhagic telangiectasia reveals null alleles.Hum Mutat, vol. 11, no. 4, 1998, pp. 286–94. Pubmed, doi:10.1002/(SICI)1098-1004(1998)11:4<286::AID-HUMU6>3.0.CO;2-B.
Gallione CJ, Klaus DJ, Yeh EY, Stenzel TT, Xue Y, Anthony KB, McAllister KA, Baldwin MA, Berg JN, Lux A, Smith JD, Vary CP, Craigen WJ, Westermann CJ, Warner ML, Miller YE, Jackson CE, Guttmacher AE, Marchuk DA. Mutation and expression analysis of the endoglin gene in hereditary hemorrhagic telangiectasia reveals null alleles. Hum Mutat. 1998;11(4):286–294.
Journal cover image

Published In

Hum Mutat

DOI

ISSN

1059-7794

Publication Date

1998

Volume

11

Issue

4

Start / End Page

286 / 294

Location

United States

Related Subject Headings

  • Vascular Cell Adhesion Molecule-1
  • Telangiectasia, Hereditary Hemorrhagic
  • Receptors, Cell Surface
  • Polymerase Chain Reaction
  • Phenotype
  • Mutation
  • Molecular Sequence Data
  • Humans
  • Genetics & Heredity
  • Genetic Linkage