De novo mutations detected in probands of 10 families
| Family | Pathogenic gene | Transcript ID | DNA_variant | Amino acid changes | Classification of variants† |
| 1 | SMARCA2 | NM_003070.5 | c.553C>G | p.(Gln185Glu) | Likely pathogenic |
| 2 | SF3B4 | NM_005850.4 | c.29delA | p.(Asn10Ilefs*30) | Pathogenic |
| 3 | PKD1 | NM_001009944.2 | c.7863+1G>A | p.(?) | Likely pathogenic |
| 4 | RERE | NM_012102.3 | c.32_33delAA | p.(Lys11fs) | Pathogenic |
| 5 | PHEX | NM_000444.6 | c.58C>T | p.(Arg20X) | Pathogenic |
| 6 | SYNGAP1 | NM_006772.2 | c.2295–2A>G | p.(?) | Pathogenic |
| 7 | TP63 | NM_003722.5 | c.1010G>A | p.(Arg337Gln) | Likely pathogenic |
| 8 | KIF11 | NM_004523.4 | c.139C>T | p.(Arg47Ter) | Pathogenic |
| 9 | GNAS | NM_000516.4 | c.493C>T | p.(Arg165Cys) | Likely pathogenic |
| 10 | ACTA1 | NM_001100.3 | c.1120C>A | p.(Arg374Ser) | Likely pathogenic |
*Termination of protein translation.
†The interpretation and classification of variants were based on ACMG guidelines.17
ACMG, American College of Medical Genetics and Genomics.