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[Pathogenic Genes of A Hereditary Hemorrhagic Telangiectasia Pedigree]
Xiao-Hui Cheng1, Chuan-Qing Tu1, Shun-Chang Sun1
1Department of Hematology, Baoan District People's Hospital, Shenzhen 518101, Guangdong Province, China.
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.
Conclusion:
The hereditary hemorrhagic telangiectasia in this pedigree is caused by the nonsense mutation c.447G > A in ENG gene.
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