Skip to main content
. 2014 Jun 25;23(3):401–404. doi: 10.1038/ejhg.2014.120

Table 2. Genes with rare heterozygous non-synonymous or splicing variants identified by exome sequencing in three couples with multiple fetuses affected with a presumed autosomal recessive lethal condition.

Family Number of genes with a different heterozygous variant in each parent Genes Number of genes with the same heterozygous variant in each parent
Short-rib polydactyl 2 DYNC2H1, NR1D1 0
1 2 CLIP1, GLE1 0
2 4 CC2D1, FAM129C, OBSCN, RYR1 0

Genes shown in bold are those in which compound heterozygous variants were identified in the affected fetuses.