Journal article
Dominant-negative alk2 allele associates with congenital heart defects
KA Smith, IC Joziasse, S Chocron, M Van Dinther, V Guryev, MC Verhoeven, H Rehmann, JJ Van Der Smagt, PA Doevendans, E Cuppen, BJ Mulder, P Ten Dijke, J Bakkers
Circulation | LIPPINCOTT WILLIAMS & WILKINS | Published : 2009
Abstract
BACKGROUND: Serious congenital heart defects occur as a result of improper atrioventricular septum (AVS) development during embryogenesis. Despite extensive knowledge of the genetic control of AVS development, few genetic lesions have been identified that are responsible for AVS-associated congenital heart defects. METHODS AND RESULTS: We sequenced 32 genes known to be important in AVS development in patients with AVS defects and identified 11 novel coding single-nucleotide polymorphisms that are predicted to impair protein function. We focused on variants identified in the bone morphogenetic protein receptor, ALK2, and subjected 2 identified variants to functional analysis. The coding singl..
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Awarded by EU
Awarded by Dutch Organization for Scientific Research
Funding Acknowledgements
Work in Dr Bakker's laboratory was supported by the Royal Dutch Academy of Arts and Sciences and EU FP6 grant LSHM-CT-2005-018833 (EUGeneHeart), Research Council for Earth and Life Sciences, with financial aid from the Netherlands Organization for Scientific Research (NWO). Dr Smith was supported by a Concordia fellowship. Dr Doevendans acknowledges support from the Dutch Organization for Scientific Research (NWO 918.66.606), and Dr Cuppen acknowledges an Investment Subsidies NWO Large Grant from the Netherlands Organization for Scientific Research.