Table 1.
Mutations identified by custom capture sequencing
| Fam | Gene | Details of mutation | Population databases | Del_Pd | CADD score | ||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Chr | Location | RA | VA | Mut | TC | Protein change | EVS_D | gnomAD_D | 1000_G | ||||
| 1 | RARB | 3 | 25542776 | G | A | AD, Het, NS | Exon 3; c.431G>A | p.Arg144Gln | NR | NR | NR | PP2: (0.998) PbD | 27 |
| 2 | BMP7 | 20 | 55803304 | G | A | AD, Het, NS | Exon 2; c.592C>T | p.Leu198Phe | NR | Hets: 9 | NR | PP2: (0.98) PbD | 26.7 |
| 3 | TFAP2A | 6 | 10400777 | G | GG | AD, Het, FS | Exon 6; c.917_918C>CC | – | NR | NR | NR | – | 36 |
| 4 | CHD7 | 8 | 61769437 | C | A | DeNv, Het, SG | Exon 34; c.7598C>A | p.Ser2533X | NR | NR | NR | – | 44 |
Note: Family 1: G>A missense mutation at Chr3: 25542776 (NM_001290216.2) of RARB causes c.431 G>A and p.Arg144Gln change. Family 2: G>A missense mutation at Chr20: 55803304 (NM_001719.2) of BMP7 causes c.592 C>T and p.Leu198Phe change. Family 3: G>GG frameshift mutation at Chr6: 10400777 (NM_003220.2) of TFAP2A causes c.917_918C>CC change. Family 4: C>A nonsense mutation at Chr8: 61769437 (NM_017780.3) of CHD7 causes c.7598 C>A and p.Ser2533X change.
Reference Sequences: RARB: NM_001290216.2, NP_001277145.1; BMP7: NM_001719.2, NP_001710.1; TFAP2A: NM_003220.2; CHD7: NM_017780.3, NP_060250.2.
Abbreviations: 1000_G, 1000 genomes; AD, autosomal dominant; Chr, chromosome; Del_Pd, deleteriousness prediction; DeNv, de novo; EVS_D, EVS database; Fam, family; FS, frameshift substitution; gnomAD_D, gnomAD database; Het, heterozygous; Hets, heterozygotes; Mut, type of mutation; NR, not reported; NS, nonsynonymous; PbD, probably damaging; PP2, PolyPhen2 score; RA, reference allele; SG, stop‐gain; TC, transcript change; VA, variant allele.