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.