Computational analyses
We utilized wAnnovar for analyzing the exome data in order to prioritize variants. The output file of this analysis included frequency of each variant in large public databases as well as predictions of pathogenicity of missense variants by multiple software. Pathogenicity scores for all missense variants according to REVEL were examined by downloading individual chromosomal files. The computational tools Predictprotein and Protfun, were used to predict the secondary structure, identify motifs and suggest possible protein function. Multiple sequence alignments of the protein sequences were performed using Clustal Omega.