Table 1

Six genes with recurrent de novo mutations. Assay is the primary assay that identified the variant. Abbreviations: M, male; F, female; Mut, mutation type; Fs, frameshifting indel; Ns, nonsense; Sp, splice site; Aa, single–amino acid deletion; Ms, missense; EX, exome; HGVS, Human Genome Variation Society nomenclature; NVIQ, nonverbal intellectual quotient.

ProbandSexGeneMutAssayHGVSNVIQ
12714.p1MCHD8*NsMIPp.Ser62X78
13986.p1MCHD8*FsMIPp.Tyr747X38
11654.p1FCHD8*SpMIP‡ (4)c.3519-2A>G41
13844.p1MCHD8*NsEXp.Gln1238X34
14016.p1MCHD8*NsMIPp.Arg1337X92
12991.p1MCHD8*FsMIPp.Glu2103ArgfsX367
12752.p1FCHD8*FsEXp.Leu2120ProfsX1393
14233.p1MCHD8*FsMIPp.Asn2371LysfsX219
14406.p1MCHD8*AaMIPp.His2498del98
12099.p1MDYRK1A*FsMIP‡ (4)p.Ile48LysfsX255
13890.p1FDYRK1A*SpEXc.1098+1G>A42
13552.p1MDYRK1A*FsMIP§ (6)p.Ala498ProfsX9466
11691.p1MGRIN2BFsMIP‡|| (3)p.Ser34GlnfsX2562
13932.p1MGRIN2BMsMIPp.Cys456Tyr55
12547.p1MGRIN2BNsMIP||p.Trp559X65
12681.p1FGRIN2BSpEXc.2172-2A>G65
14433.p1MPTENMsMIPp.Thr131Ile50
14611.p1MPTENFsMIPp.Cys136MetfsX4433
11390.p1FPTENMsEXp.Thr167Asn77
12335.p1FTBL1XR1*MsEXp.Leu282Pro47
14612.p1MTBL1XR1*FsMIPp.Ile397SerfsX1941
11480.p1MTBR1FsEXp.Ala136ProfsX8041
13814.p1MTBR1MsMIPp.Lys228Glu78
13796.p1FTBR1FsMIP‡ (4)p.Ser351X63

*Part of 49-member connected component reported in (3). †Part of expanded 74-member connected component.

‡,§Proband was exome sequenced by cited study and variant was ‡not reported or §reported.

||Variant reported in MIP screen from (3).