Advanced Search

Journal Navigation

Journal Home

Subscriptions

Archive

Contact Us

Table of Contents

CiteULike is a free service for managing and discovering scholarly references - click here to get started.

Sign In to gain access to subscriptions and/or personal tools.
Journal of Dental Research
This Article
Right arrow Figures Only
Right arrow Full Text
Right arrow Full Text (PDF)
Right arrow Alert me when this article is cited
Right arrow Alert me if a correction is posted
Right arrow Citation Map
Services
Right arrow Email this article to a friend
Right arrow Similar articles in this journal
Right arrow Similar articles in PubMed
Right arrow Alert me to new issues of the journal
Right arrow Add to Saved Citations
Right arrow Download to citation manager
Right arrowRequest Permissions
Right arrow Request Reprints
Right arrow Add to My Marked Citations
Citing Articles
Right arrow Citing Articles via Google Scholar
Right arrow Citing Articles via Scopus
Google Scholar
Right arrow Articles by Yan, Z.M.
Right arrow Articles by Wang, S.L.
Right arrow Search for Related Content
PubMed
Right arrow PubMed Citation
Right arrow Articles by Yan, Z.M.
Right arrow Articles by Wang, S.L.
Right arrowPubmed/NCBI databases
*Gene*GEO Profiles
*HomoloGene*UniGene
*Genetics Home Reference
Social Bookmarking
Add to CiteULike   Add to Complore   Add to Connotea   Add to Del.icio.us   Add to Digg   Add to Reddit   Add to Technorati   Add to Twitter  
What's this?

Clinical

A Novel Mutation in ALK-1 Causes Hereditary Hemorrhagic Telangiectasia Type 2

Z.M. Yan1,#, Z.P. Fan2,#, J. Du2,3, H. Hua1, Y.Y. Xu1,* and S.L. Wang2,*

1 Department of Oral Medicine, Peking University School of Stomatology, 22 South Zhong Guan Cun Street, Beijing 100081, People’s Republic of China;
2 Molecular Laboratory for Gene Therapy, School of Stomatology, Capital Medical University, 4 Tian Tan Xi Li, Chongwen District, Beijing 100050, People’s Republic of China; and
3 Chinese National Human Genome Center, 707 North Yongchang Road, BDA, Beijing 100176, People’s Republic of China

Correspondence: * corresponding authors, xuyy{at}mail.nsfc.gov.cn and songlinwang{at}dentist.org.cn

Hereditary hemorrhagic telangiectasia (HHT) is an autosomal-dominant bleeding disorder and has two variants, HHT1 and HHT2, associated with mutations in the ENG and ALK-1 genes, respectively. We identified one Chinese HHT2 family to investigate the pathogenic gene and its possible mechanism of action by mutation screening and functional study. One substitution mutation (1717C>T) in exon 10 of the ALK-1 was found by sequencing of all exons of ENG and ALK-1 and caused a R479X mutation in the ALK-1 protein. ALK-1 mRNA and plasma thrombomodulin were measured by real-time quantitative PCR and ELISA, respectively. There was no significant difference in the expression levels of ALK-1 mRNA between patients and healthy individuals. A significantly higher level of thrombomodulin was found in HHT patients. These findings indicate that the mutation causes truncation of the ALK-1 protein at the post-transcriptional level; the plasma thrombomodulin may provide an easy diagnostic indicator in HHT patients.

Key Words: hereditary hemorrhagic telangiectasia (HHT) • thrombomodulin • mutation • ALK-1

Journal of Dental Research, Vol. 85, No. 8, 705-710 (2006)
DOI: 10.1177/154405910608500804
Add to CiteULike CiteULike   Add to Complore Complore   Add to Connotea Connotea   Add to Del.icio.us Del.icio.us   Add to Digg Digg   Add to Reddit Reddit   Add to Technorati Technorati   Add to Twitter Twitter    What's this?