Table 1. Variant filtering identifies WDR62 as the causative gene for MCSG.

Variant filtering identifies a single gene, WDR62, disrupted in two families with MCSG. Variants were filtered to remove common polymorphisms and then annotated to highlight variants with functional splicing or coding implications, reducing the number of candidate mutations in each individual to five in LIS-903 and seven in LIS-2602. Of these candidates, only one gene, WDR62, was disrupted in both families.

	LIS-903	LIS-2602
Total variants	2310	2570
Rare variants not in dbSNP/1000G	262	323
Pathogenic	93	99
Rare and pathogenic	5	7
Rare, pathogenic and in both families	WDR62	WDR62