Fig. 1.

Workflow and findings of patient analysis. The first column shows molecular analysis before whole exome sequencing (WES) for 19 patients from 14 families. Rectangles contain either single patients (x) or siblings (x.1, x.2). If in a family only one sibling was analyzed, his or her number is shown in bold. Patients who had either not been previously analyzed or for whom no causative mutation had been found (findings shown in red) were subjected to WES (second column). For two patients, cryopreserved PBMCs were available for functional testing (third column). Het. heterozygous; Ex3del deletion of exon 3; Ex2_4del deletion of exons 2-4