[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.


CONCLUSIONS
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.
Xie
Bing-shou
BS
Wenzhou 3rd People's Hospital, Wenzhou 325000, China.
Xie
Shuang
S
Chen
Ping
P
Zhu
Miao-yong
MY
Zheng
Jia-yong
JY
Wang
Xue-feng
XF
Fu
Qi-hua
QH
Zhou
Rong-fu
RF
Wang
Wen-bin
WB
Wu
Wen-man
WM
Ding
Qiu-lan
QL
Wang
Hong-li
HL
Hu
Li-ming
LM
D030301:Activin Receptors, Type II / Q000235:genetics*; D000368:Aged; D015703:Antigens, CD / Q000235:genetics; D001483:Base Sequence; D018389:Codon, Nonsense; D004252:DNA Mutational Analysis; D005091:Exons / Q000235:genetics; D005260:Female; D006801:Humans; D008297:Male; D010375:Pedigree; D017354:Point Mutation; D011956:Receptors, Cell Surface / Q000235:genetics; D013683:Telangiectasia, Hereditary Hemorrhagic / Q000235:genetics* / Q000473:pathology
D015703:Antigens, CD; D018389:Codon, Nonsense; D011956:Receptors, Cell Surface; D030301:Activin Receptors, Type II