Journal article
ALK2 mutation in a patient with Down's syndrome and a congenital heart defect
IC Joziasse, KA Smith, S Chocron, M Van Dinther, V Guryev, JJ Van De Smagt, E Cuppen, P Ten Dijke, BJM Mulder, CL Maslen, B Reshey, PA Doevendans, J Bakkers
European Journal of Human Genetics | NATURE PUBLISHING GROUP | Published : 2011
Abstract
Down's syndrome (DS), resulting from an additional copy of chromosome 21 (trisomy 21), is frequently associated with congenital heart defects (CHDs). Although the increased dosage of chromosome 21 sequences is likely to be part of the etiology of cardiac defects, only a proportion of DS patients exhibit a congenital heart defect (birth prevalence 40-60%). Through a large-candidate gene-sequencing screen in patients with atrioventricular septal defects, substitutions were identified in bone morphogenetic protein (BMP) type I receptor ALK2 and two other genes in a patient with DS and a primum-type atrial septal defect. Structural modeling of the cytoplasmic domain of the ALK2 receptor suggests..
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Funding Acknowledgements
We kindly acknowledge the cooperation of the index patient and his family members. Work in JB's laboratory was partly supported by EU FP6 grant LSHM-CT-2005-018833, EUGeneHeart.