OBJECTIVE

To identify the mutation of ENG and ALK1 genes in a hereditary hemorrhagic telangiectasia pedigree.

METHODS

14 exons of ENG gene and 9 exons of ALK1 gene in 11 menbers of this pedigree 4 generation were amplified by reverse transcription-polymerase chain reaction (RT-PCR), the PCR products were screened by direct sequencing.

RESULTS

A nonsense mutation c.447G>> A was found in exon 4 of ENG gen of the pedigreee, resulting in change of Trp 149 into Stop, while no gene mutation was found in ALK1 gene.

CONCLUSIONS

The hereditary hemorrhagic telangiectasia in this pedigree is caused by the nonsense mutation c.447G>> A in ENG gene.