Table 1.
Genes and mutations identified in this study
| ID | Gene | Base change | AA change | Inheritance | Heterozygous/ homozygous | N/R | SIFT | PolyPhen2 | MutationTaster |
Paternal origin |
|---|---|---|---|---|---|---|---|---|---|---|
| R609 | KIF1A | c.275_276insAA | p. Cys92* | AD | Heterozygous | N | – | – | Disease causing | De novo |
| R415 | KCNQ2 | c.637C > T | p. Arg213Trp | AD | Heterozygous | R | Affect protein function | Probably damaging | Disease causing | De novo |
| R625 | GRIN1 | c.2377C > A | p. Val793Phe | AD | Heterozygous | N | Affect protein function | Probably damaging | Disease causing | De novo |
| R639 | PPT1 | c. 163 A > T | p. Lys55* | AR | Compound heterozygous | R | – | – | Disease causing | Maternal |
| c.31_32insGG | p. Ala11Gly fs*27 | N | – | – | Disease causing | Paternal | ||||
| R680 | MEF2C | c.48C > G | p. Asn16Lys | AD | Heterozygous | N | Affect protein function | Possibly damaging | Disease causing | De novo |
| R554 | MEF2C | c.565C > T | p. Arg189* | AD | Heterozygous | R | – | – | Disease causing | Mather was WT; father unknown |
| R746 | MEF2C | c.334G > T | p. Glu112* | AD | Heterozygous | N | – | – | Disease causing | Father was WT; mother unknown |
| R878 | WDR45 | c.249G > A | p. Trp83T* | XLD | Heterozygous | N | – | – | Disease causing | De novo |
| WRY | WDR45 | c.340_342delGAC | p. Asp114* | XLD | Heterozygous | N | – | – | Disease causing | De novo |
| R547 | TCF4 | c.1414delG | p. Val472Phe fs*16 | AD | Heterozygous | R | – | – | Disease causing | De novo |
| R883 | IQSEC2 | c.2776C > T | p. Arg926* | XLD | Heterozygous | N | – | Disease causing | De novo | |
| R685 | SDHA | c.739A > G | p. Ile247Val | AR | Compound heterozygous | N | Disease causing | Maternal | ||
| c.1944_1945delTT | p. Leu649Glu fs*4 | N | – | – | Disease causing | Paternal | ||||
| R214 | MECP2 | c.763C > T | p. Arg255* | XLD | Heterozygous | R | – | – | Disease causing | De novo |
| R858 | MECP2 | c.1363G > T | p. Glu455* | XLD | Heterozygous | R | – | – | Disease causing | De novo |
Abbreviations: –, truncated mutations; which were not applicable for analysis; XLD, X‐linked dominant; AD, autosomal dominant; AR, autosomal recessive; WT, wild type.