Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP Download |  REST API |  Citing RGD |  Contact   

Characterization of endoglin and identification of novel mutations in hereditary hemorrhagic telangiectasia.

Authors: Shovlin, CL  Hughes, JM  Scott, J  Seidman, CE  Seidman, JG 
Citation: Shovlin CL, etal., Am J Hum Genet. 1997 Jul;61(1):68-79.
Pubmed: (View Article at PubMed) PMID:9245986
DOI: Full-text: DOI:10.1086/513906

To identify mutations that cause hereditary hemorrhagic telangiectasia (HHT, or Rendu-Osler-Weber syndrome), clinical evaluations and genetic studies were performed on 32 families. Linkage studies in four of eight families indicated an endoglin (ENG) gene mutation. ENG sequences of affected members of the four linked families and probands from the 24 small families were screened for mutations, by Southern blot analyses and by cycle sequencing of PCR-amplified DNA. Seven novel mutations were identified in eight families. Two mutations (a termination codon in exon 4 and a large genomic deletion extending 3' of intron 8) did not produce a stable ENG transcript in lymphocytes. Five other mutations (two donor splice-site mutations and three deletions) produce altered mRNAs that are predicted to encode markedly truncated ENG proteins. Mutations in other families are predicted to lie in ENG-regulatory regions or in one of the additional genes that may cause HHT. These data suggest that the molecular mechanism by which ENG mutations cause HHT is haploinsufficiency. Furthermore, because the clinical manifestation of disease in these eight families was similar, we hypothesize that phenotypic variation of HHT is not related to a particular ENG mutation.


Disease Annotations
Phenotype Annotations
Objects Annotated

Additional Information

CRRD Object Information
CRRD ID: 11041183
Created: 2016-03-23
Species: All species
Last Modified: 2016-03-23
Status: ACTIVE


RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.