Table 2.

Whole-exome sequencing analysis.

WES filtering strategy	Total % solved	Group 1 % solved	Group 2 % solved
Consanguineous and/or >1 patient Autosomal recessive (AR) X-linked (XLR)	68% (27/40)	65% (17/26)	71% (10/14)
Non-consanguineous, 1 patient Autosomal recessive (AR) X-linked (XLR and XLD) Autosomal dominant (AD)	56% (30/54) of which 15% de novo (8/54)	59% (22/37)	47% (8/17)

94 patients were subject to WES analysis. WES-data was filtered according to the presumed pattern of disease inheritance, where consanguinity or involvement of >1 patient were indicative of a recessively inherited disorder and non-consanguineous families with a single patient were likely to cover both, recessively inherited and dominant de novo mutations.