heart defects
Using exome sequencing, we discovered missense mutations in AFF4, a core component of the SEC, in three unrelated probands with a new syndrome that phenotypically overlaps Cornelia de Lange syndrome (CdLS) that we have named CHOPS syndrome (C for cognitive impairment and coarse facies, H for heart defects, O for obesity, P for pulmonary involvement and S for short stature and skeletal dysplasia).
Using exome sequencing, we discovered missense mutations in <span class="gene" id="25730767-3-60-64">AFF4</span>, a core component of the SEC, in three unrelated probands with a new syndrome that phenotypically overlaps Cornelia de Lange syndrome (CdLS) that we have named CHOPS syndrome (C for cognitive impairment and coarse facies, H for <span class="disease" id="25730767-3-293-306">heart defects</span>, O for obesity, P for pulmonary involvement and S for short stature and skeletal dysplasia).