Table 2 Genotyping by Sanger sequencing of the seven candidate causative variants located in six different genes to validate the concordance among cases
Differences in:GRAPLGRAPLFAM83GPDILTDLGAP2TDRD6USP4
Positionchr5:41,014,230chr5:41,014,231chr5:41,055,619chr6:24,951,743chr37:30,832,376chr12:14,853,811chr20:39,951,727
Case 1T/TT/TC/CG/TC/TC/CT/T
Case 2T/TT/TC/CG/TC/CC/CG/G
Case 3T/TT/TC/CG/TC/TC/TG/G
Case 4T/TT/TC/CT/TC/CT/TG/G
Case 5T/TT/TC/CG/TC/TC/TT/T
Case 6T/TT/TC/CG/GC/TT/TT/T
Case 7T/TT/TC/CG/GC/TC/TG/G
Case 8T/TT/TC/CG/GC/TC/TG/T
Control 1G/GC/CG/GG/TT/TC/TT/T
Control 2G/GC/CG/GG/GT/TC/TG/G
Control 3G/GC/CG/GG/TT/TC/TG/G
Control 4G/GC/CG/GG/GC/TC/CG/G
Control 5G/TC/TC/GG/TC/TC/TG/G
Control 6G/TC/TG/GG/TC/TC/TG/T
Control 7G/GC/CG/GG/GC/TC/CG/G
Control 8G/GC/CG/GG/GC/TC/CG/G
Control 9G/TC/TC/GG/GT/TC/CG/T
Control 10G/GC/CG/GG/GC/TC/CG/T
Control 11G/TC/TC/GG/TC/CC/TG/G
Control 12G/GC/CG/GG/TC/TC/TG/G
Control 13G/GC/CG/GG/TC/CC/TG/G
Control 14G/GC/CG/GG/GC/TC/CG/G
Control 15G/GC/CG/GG/TC/TC/TG/G
Control 16G/GC/CG/GG/TC/CC/TG/T
CanFam3.1G/GC/CG/GG/GC/CC/CG/G
  • The GRAPL, FAM83G, PDILT, DLGAP2, TDRD6, and USP4 genes and their respective chromosomal positions with genotypes are indicated. The eight additional affected individuals (cases 1–8), the 16 healthy controls (controls 1–16), and in the CanFam3.1 reference genome sequence are indicated to the left.