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Table 1 Haplotypes at EIF3F in 15 families

From: EIF3F-related neurodevelopmental disorder: refining the phenotypic and expanding the molecular spectrum

Pedigree Combination of haplotypes in…
…Affected individual …Mother (frequency of 2nd haplotype) …Father (frequency of 2nd haplotype)
P1 CCACCGC/CCACCGC CCACCGC/CCACTGC (0.534) CCACCGC/CTGCTGT (0.124)
P2 [C]CACCGC/[C]CACCGC [C]CACCGC/[C]CACTGC (0.534) [C]CACCGC/[C]CGACGC (0.158)
P3 [C]CACCGC/[C]CGACGC§ [C]CACCG[C]/[C]CACTG[C] (0.534) [C]CGACG[C]§/[C]CACTG[C] (0.534)
P4 [c]CACC[g]C/[c]CACC[g]C [c]CACC[g]C/[c]CGCC[c]C (0.095) [c]CACC[g]C/[c]CACT[g]C (0.534)
P6 CCACCGC/CCACCGC [C]CACCGC/[C]CGCCGC (0.095) [C]CACCG[C]/[C]CGACG[C] (0.158)
P7 CCACCGC/CCACCGC CCACCGC/CTGCTGT (0.124) CCACCGC/CCACCGC (0.035)
P9 CCACCGC/CCACCGC CCACCGC/CCACTGC (0.534) CCACCGC/CCGCCGC (0.095)
P10 [C]CACCGC/[C]CACCGC [C]CCCG[C]/[C]C[x]CTG[C] (n.a.) [C]CACCG[C]/[C]CACTG[C] (0.534)
P11 CCACCGC/CCACCGC CCACCGC/CCACTGC (0.534) CCACC[G]C/CCACT[G]C (0.534)
P12 [C]CACCGC/[C]CACCGC CCACCGC/TTGCTTT (0.047) [C]CACCGC/[C]CACTGC (0.534)
P13 CCACCGC/CCACCGC CCACCGC/CCGCCGC (0.095) CCACCGC/CCACTGC (0.534)
P14 CCACCGC/CCACCGC No WES No WES
P15 CCACCGC/CCACCGC No WES No WES
P16 CCACCGC/CCACCGC No WES No WES
P17 {C}CACC{G}C/{C}CACC{G}C CCACC[G]C/CTGCT[G]T (0.124) CCACCGC/CCACTGC (0.534)
  1. For haplotype analyses, seven intragenic SNPs were used: rs79714374, rs12421289, rs12278319, rs7941782, rs4758267, rs12420464 and rs56392532. Haplotype C–C-A-C–C-G-C harboring the missense variant, had a frequency of 3.5% in 1818 independent, house-internal control WES from Germany. Genotypes of rs79714374 and rs56392532 in [brackets] had a low coverage, but due to very high linkage disequilibrium, their genotypes in individuals of P2, P3, P6, P10, P12, P17 could be tagged by rs12420464 and rs12421289, respectively. Genotypes in {other brackets} could be inferred in single individuals of P10, P17 due to available genotypes in other core family members and the ones in lowercase in [brackets] in P4 from haplotypes in 1818 control WES
  2. P, pedigree; n.a, not applicable
  3. §c.861dup/ p.(Gln288AlafsTer14) is on the underlined haplotype in P3 (frequency of 0.158 in controls)