[Hereditary hemorrhagic telangiectasia resulted from a nonsense mutation Arg479 Stop in the ALK-1 gene].

OBJECTIVE: To identify the gene mutations in a pedigree with hereditary hemorrhagic telangiectasia. METHODS: Genomic DNA was extracted from the peripheral blood of the propositus. All of the exons, intron/exon boundaries and the 5' untranslation regions (UTR) of the ALK-1 and endoglin gene were amplified by polymerase chain reaction (PCR). The PCR products were screened by direct sequencing. RESULTS: The mutation is a C1437T substitution in exon 10 of the ALK-1 gene, resulting in Arg 479 Stop. CONCLUSION: The hereditary hemorrhagic telangiectasia propositus is caused by a heterozygous Arg 479 Stop mutation in the ALK-1 gene which has not been identified previously.