Table 2.
Genotype–phenotype associations. Co-segregation of the six variants with HL in the fourteen members of the family for whom ES was performed. Each patient’s age and gender are indicated. The underlined genotypes are not consistent with the phenotypes of the patients, while the ones reported in bold highlight the segregation of the most interesting variant (NM_181659.3, c.2909G>C, p.(Gly970Ala), rs765371222) in the affected individuals.
| Subject | Affection | Variants | |||||
|---|---|---|---|---|---|---|---|
|
ALDH1B1 NM_000692.5 |
SMC2 NM_001042550.2 |
NCO3 NM_181659.3 |
MBD2 NM_015832.6 |
KCNH6 NM_030779.4 |
PKHD1L1 NM_177531.4 |
||
| c.G1087A | c.A1514G | c.G2909C | c.G707T | c.G263T | c.T9722A | ||
| II-3 (male, 92 y.o) |
healthy | G/G | A/A | G/G | G/G | false positive | T/T |
| II-4 (female, 94 y.o.) |
affected | G/A | A/G | G/C | G/T | false positive | T/A |
| II-5 (male, 88 y.o.) |
affected | G/A | A/G | G/C | G/T | false positive | T/A |
| III-1 (male, 80 y.o.) |
affected | G/A | A/G | G/C | G/T | false positive | T/T |
| III-3 (female, 75 y.o.) |
affected | G/A | A/G | G/C | G/T | false positive | T/A |
| III-5 (male, 71 y.o.) |
affected | G/G | A/A | G/C | G/G | false positive | T/T |
| III-6 (male, 70 y.o.) |
affected | G/G | A/G | G/C | G/G | false positive | T/T |
| III-7 (female, 68 y.o.) |
affected | G/A | A/G | G/C | G/G | false positive | T/T |
| III-8 (female, 70 y.o.) |
affected | G/G | A/G | G/G | G/G | false positive | T/T |
| III-9 (male, 68 y.o.) |
healthy | G/G | A/G | G/G | G/T | false positive | T/T |
| III-10 (male, 64 y.o.) |
affected | G/A | A/G | G/C | G/T | false positive | T/A |
| III-11 (male, 60 y.o.) |
affected | G/G | A/G | G/C | G/G | false positive | T/T |
| III-13 (female, 56 y.o.) |
affected | G/A | A/G | G/C | G/T | false positive | T/A |
| III-15 (male, 60 y.o.) |
affected | G/A | A/G | G/C | G/T | false positive | T/A |