TABLE 2.
Summary of ddPCR data in families where parental mosaicism was detected
| ddPCR results | EHMT1 family | ITPR1 family |
|---|---|---|
| Gene | EHMT1 | ITPR1 |
| Variant | c.2986C > T | c.7642_7644del |
| Amino acid change | p.Gln996* | p.Lys2548del |
| Transcript | NM_024757.4 | NM_002222.5 |
| ACMG Class | Likely pathogenic (4) | Pathogenic (5) |
| Parent with findings | Father | Father |
| VAF (%) | ||
| Blood | – | 9.28 |
| Sperm | 1.11 | 20.24 |
| Number of droplets | ||
| Father (blood), in total | 586,705 | 35,553 |
| VIC positive | 325,202 | 19,323 |
| FAM positive | – | 2741 |
| Father (sperm), in total | 284,766 | 37,380 |
| VIC positive | 145,311 | 20,416 |
| FAM positive | 2202 | 6789 |
| Reached sensitivity | 1:100,000 | 1:10,000 |
Note: Variants were classified according to the American College of Medical Genetics and Genomics (ACMG) guidelines for interpretation of genetic variants.
Abbreviation: VAF, variant allelic fraction.