Table 1 Validation of the genotypes obtained by WGS of the family trio
Positionchr5: 41014230chr5: 41014231chr5: 41055619chr6: 24951743chr37: 30832376chr12: 14853811chr20: 39951727
Affected offspringT/TT/TC/CT/TT/TT/TT/T
Healthy sireG/TC/TC/GG/TC/TC/TG/T
Healthy damG/TC/TC/GG/TC/TC/TG/T
  • Genotyping was made by Sanger sequencing of the seven candidate causative variants located in six different genes: GRAPL, FAM83G, PDILT, DLGAP2, TDRD6, and USP4. The genes and their respective chromosomal positions are indicated above. Genotypes obtained from the affected offspring, the healthy sire, and the healthy dam are indicated.