title: Endoglin, a TGF-beta binding protein of endothelial cells, is the gene for hereditary haemorrhagic telangiectasia type 1.
abstract: Hereditary haemorrhagic telangiectasia (HHT) is an autosomal dominant disorder characterized by multisystemic vascular dysplasia and recurrent haemorrhage. Linkage for some families has been established to chromosome 9q33-q34. In the present study, endoglin, a transforming growth factor beta (TGF-beta) binding protein, was analysed as a candidate gene for the disorder based on chromosomal location, expression pattern and function. We have identified mutations in three affected individuals: a C to G substitution converting a tyrosine to a termination codon, a 39 base pair deletion and a 2 basepair deletion which creates a premature termination codon. We have identified endoglin as the HHT gene mapping to 9q3 and have established HHT as the first human disease defined by a mutation in a member of the TGF-beta receptor complex.
authors.affiliation: Department of Genetics, Duke University Medical Center, Durham, North Carolina 27710.
authors.forename: K A
authors.initials: KA
authors.lastname: McAllister
authors.forename: K M
authors.initials: KM
authors.lastname: Grogg
authors.forename: D W
authors.initials: DW
authors.lastname: Johnson
authors.forename: C J
authors.initials: CJ
authors.lastname: Gallione
authors.forename: M A
authors.initials: MA
authors.lastname: Baldwin
authors.forename: C E
authors.initials: CE
authors.lastname: Jackson
authors.forename: E A
authors.initials: EA
authors.lastname: Helmbold
authors.forename: D S
authors.initials: DS
authors.lastname: Markel
authors.forename: W C
authors.initials: WC
authors.lastname: McKinnon
authors.forename: J
authors.initials: J
authors.lastname: Murrell
mesh_terms: D000595:Amino Acid Sequence; D015703:Antigens, CD; D001483:Base Sequence; D002874:Chromosome Mapping; D002899:Chromosomes, Human, Pair 9; D003062:Codon; D018076:DNA, Complementary; D000071063:Endoglin; D005260:Female; D006801:Humans; D008297:Male; D008562:Membrane Glycoproteins / Q000235:genetics* / Q000378:metabolism; D008969:Molecular Sequence Data; D010375:Pedigree; D011956:Receptors, Cell Surface; D013683:Telangiectasia, Hereditary Hemorrhagic / Q000235:genetics*; D013728:Terminator Regions, Genetic; D016212:Transforming Growth Factor beta / Q000378:metabolism*; D019010:Vascular Cell Adhesion Molecule-1
chemical_list: D015703:Antigens, CD; D003062:Codon; D018076:DNA, Complementary; C064206:ENG protein, human; D000071063:Endoglin; D008562:Membrane Glycoproteins; D011956:Receptors, Cell Surface; D016212:Transforming Growth Factor beta; D019010:Vascular Cell Adhesion Molecule-1