Hereditary hemorrhagic telangiectasia resulted from a nonsense mutation Arg479 Stop in the ALK-1 gene.
- Author:
Bing-shou XIE
1
;
Shuang XIE
;
Ping CHEN
;
Miao-yong ZHU
;
Jia-yong ZHENG
;
Xue-feng WANG
;
Qi-hua FU
;
Rong-fu ZHOU
;
Wen-bin WANG
;
Wen-man WU
;
Qiu-lan DING
;
Hong-li WANG
;
Li-ming HU
Author Information
- Publication Type:Case Reports
- MeSH: Activin Receptors, Type II; genetics; Aged; Antigens, CD; genetics; Base Sequence; Codon, Nonsense; DNA Mutational Analysis; Exons; genetics; Female; Humans; Male; Pedigree; Point Mutation; Receptors, Cell Surface; genetics; Telangiectasia, Hereditary Hemorrhagic; genetics; pathology
- From: Chinese Journal of Hematology 2004;25(9):536-539
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVETo identify the gene mutations in a pedigree with hereditary hemorrhagic telangiectasia.
METHODSGenomic 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.
RESULTSThe mutation is a C1437T substitution in exon 10 of the ALK-1 gene, resulting in Arg 479 Stop.
CONCLUSIONThe hereditary hemorrhagic telangiectasia propositus is caused by a heterozygous Arg 479 Stop mutation in the ALK-1 gene which has not been identified previously.
