Figure 1

Flow chart of variant analysis. IntegraGen provided the results in form of excel tables. For each sample on average 946 SNPs and 83 inDels were detected, of which 11 represent missense, nonsense or putative splice site mutations, which were absent in dbSNB, NCBI and 1000 genome databases. Of those 1-5 variants were predicted to be pathogenic. In case where none of the variants were predicted to be pathogenic, dbSNB, NCBI and 1000 genome databases were included to detect mutations referenced with an rs-number. Co-segregation analysis was performed in families with putative pathogenic variants.