Send to

Choose Destination
Zhonghua Yi Xue Za Zhi. 2007 Jan 23;87(4):249-52.

[Hereditary hemorrhagic telangiectasia caused by mutation in intron 4 of ALK1 gene: analysis of a HTT family].

[Article in Chinese]

Author information

Department of Hematology, Beijing Friendship Hospital Affiliate to Capital University of Medical Sciences, Beijing 100050, China.



To investigate the molecular pathogenesis of hereditary hemorrhagic telangiectasia (HHT).


Peripheral blood samples were collected from a HTT family, including the proband, female, aged 48, and her mother, elder brother, elder sister, younger brother, and son. HHT gene mutations were identified by PCR-SSCP and DNA sequencing and confirmed by reverse sequencing. Ectopic transcripts of RT-PCR were used to confirm the characteristics of the mutation in non-canonical splicing site (IV S4 + 3 a > t).


A mutational segment of PCR product of exon 4, exon-intron boundaries and the 3', 5' untranslated sequence of ALK1 gene was identified by PCR-SSCP. The mutational segment was analyzed by DNA sequencing. An IV S4 + 3 a > t mutation was found, causing splicing abnormality of intron 4 and exon 3 skipping.


A splicing pattern of the IV S4 + 3 a > t mutation has been reported among Chinese HHT2 patients for the first time.

[Indexed for MEDLINE]

Supplemental Content

Full text links

Icon for Chinese Medical Association Publishing House Ltd.
Loading ...
Support Center