The NF1 microdeletion syndrome is caused by the deletion of a chromosome 17 region encompassing the NF1 gene and flanking genes. We previously found that the patients with the syndrome display a significantly higher incidence of Cardiovascular Malformations (CVMs) than that observed in the NF1 patients with intragenic mutations, suggesting that genes present in the deleted segment are essential for normal heart development.
Here we showed that one of these genes, ADAP2, is expressed in heart during fundamental phases of cardiac development. The functional inactivation of ADAP2 in zebrafish demonstrated its important role in heart development and pointed to ADAP2 as the best candidate gene for the occurrence of CVMs in NF1-microdeleted patients. Our study constitutes a step towards a better comprehension of the complex phenotypic spectrum of the syndrome. (By Dr. Marco Venturin, http://jmg.bmj.com/content/early/2014/04/07/jmedgenet-2013-102240 )