Table 2 Data on patients in whom intelligence tests were applied. Higher mean IQ values were observed in homozygous carriers of the rs113883650 variant (+ 0.54 SD) and in the overall group of carriers (+ 0.19 SD), compared to noncarriers (-0.28 SD). These differences were statistically significant (p = 0.04). No statistically significant age differences were found between carriers and noncarriers. * w/w = noncarriers; het = heterozygous carrier of the rs113883650 variant; homoz = patient homozygous for rs113883650; ** not known; *** according to literature data52.
ID | Sex | SLC7A5 genotype* | PAH genotype** | Age | Test result | Standard deviation | Test type / populational mean; SD*** |
|---|---|---|---|---|---|---|---|
NK | m | w/w | p.(Arg408Trp)/p.(Arg408Trp) | 6 | 116 | 0.3 | WISC-R / 112.5; 11.6 |
PG | f | w/w | p.(Arg408Trp)/p.(Arg408Trp) | 6 | 107 | − 0.47 | WISC-R / 112.5; 11.6 |
SM | f | w/w | p.(Arg408Trp)/p.(Arg408Trp) | 6 | 114 | 0.13 | WISC-R / 112.5; 11.6 |
BM | f | w/w | p.(Arg408Trp)/p.(Arg408Trp) | 7 | 126 | 1.16 | WISC-R / 112.5; 11.6 |
BB | m | w/w | p.(Arg408Trp)/p.(Arg408Trp) | 7 | 130 | 1.51 | WISC-R / 112.5; 11.6 |
HK | m | w/w | p.(Arg408Trp)/p.(Arg408Trp) | 7 | 86 | − 2.28 | WISC-R / 112.5; 11.6 |
NM | m | w/w | p.(Arg408Trp)/p.(Arg158Gln) | 7 | 104 | − 0.73 | WISC-R / 112.5; 11.6 |
OT | m | w/w | p.(Arg408Trp)/p.(Arg408Trp) | 8 | 124 | 0.99 | WISC-R / 112.5; 11.6 |
SI | m | w/w | p.(Arg408Trp)/p.(Pro281Leu) | 8 | 110 | − 0.22 | WISC-R / 112.5; 11.6 |
GAB | f | w/w | p.(Tyr414Cys)/N | 8 | 99 | − 1.16 | WISC-R / 112.5; 11.6 |
FP | m | w/w | p.(Arg408Trp)/p.(Arg408Trp) | 9 | 91 | − 1.85 | WISC-R / 112.5; 11.6 |
KK | f | w/w | p.(Arg408Trp)/p.(Arg408Trp) | 9 | 101 | − 0.99 | WISC-R / 112.5; 11.6 |
PD | f | w/w | p.(Arg408Trp)/p.(Arg408Trp) | 9 | 113 | 0.04 | WISC-R / 112.5; 11.6 |
PW | f | w/w | p.(Arg158Gln)/p.(Pro281Leu) | 9 | 106 | − 0.56 | WISC-R / 112.5; 11.6 |
PN | m | w/w | p.(Arg408Trp)/c.1066-11G > A | 9 | 100 | − 1.08 | WISC-R / 112.5; 11.6 |
BW | f | w/w | p.(Arg408Trp)/c.1066-11G > A | 10 | 115 | 0.22 | WISC-R / 112.5; 11.6 |
GM | m | w/w | p.(Arg408Trp)/p.(Arg408Trp) | 10 | 110 | − 0.22 | WISC-R / 112.5; 11.6 |
SYL | f | w/w | p.(Arg408Trp)/p.(Glu280Lys) | 10 | 102 | − 0.91 | WISC-R / 112.5; 11.6 |
MK | f | w/w | p.(Arg408Trp)/p.(Arg408Trp) | 11 | 133 | 1.77 | WISC-R / 112.5; 11.6 |
RS | m | w/w | p.(Arg408Trp)/p.(Arg408Trp) | 11 | 100 | − 1.08 | WISC-R / 112.5; 11.6 |
GP | m | w/w | p.(Arg408Trp)/p.(Arg158Gln) | 11 | 86 | − 2.28 | WISC-R / 112.5; 11.6 |
ALE | m | w/w | p.(Arg158Gln)/p.(Glu390Gly) | 11 | 115 | 0.22 | WISC-R / 112.5; 11.6 |
KW | f | w/w | p.(Arg408Trp)/p.(Arg408Trp) | 12 | 133 | 1.77 | WISC-R / 112.5; 11.6 |
WP | m | w/w | p.(Arg408Trp)/c.1315 + 1G > A | 12 | 112 | − 0.04 | WISC-R / 112.5; 11.6 |
NA | m | w/w | p.(Arg408Trp)/p.(Arg408Trp) | 12 | 136 | 2.03 | WISC-R / 112.5; 11.6 |
SA | f | w/w | p.(Arg408Trp)/p.(Arg408Trp) | 13 | 110 | − 0.22 | WISC-R / 112.5; 11.6 |
TK | m | w/w | p.(Arg408Trp)/p.(Arg408Trp) | 13 | 111 | − 0.13 | WISC-R / 112.5; 11.6 |
KA | f | w/w | p.(Arg408Trp)/p.(Arg408Trp) | 14 | 124 | 0.99 | WISC-R / 112.5; 11.6 |
RK | f | w/w | p.(Arg408Trp)/p.(Arg408Trp) | 14 | 107 | − 0.47 | WISC-R / 112.5; 11.6 |
BG | m | w/w | p.(Arg408Trp)/p.(Arg408Trp) | 14 | 91 | − 1.85 | WISC-R / 112.5; 11.6 |
CW | f | w/w | p.(Arg408Trp)/c.1315 + 1G > A | 15 | 113 | 0.04 | WISC-R / 112.5; 11.6 |
ME | m | w/w | p.(Arg408Trp)/p.(Arg408Trp) | 15 | 107 | − 0.47 | WISC-R / 112.5; 11.6 |
WK | m | w/w | p.(Arg408Trp)/p.(Arg408Trp) | 15 | 104 | − 0.73 | WISC-R / 112.5; 11.6 |
PAT | f | w/w | N/N | 16 | 104 | 0.3 | WISC-R / 112.5; 11.6 |
Mean = 110 | Mean = − 0.22 | ||||||
WIT | m | w/w | p.(Arg408Trp)/p.(Arg408Trp) | 6 | 100 | − 0.2 | IDS-2 / 102.46; 12 |
ZOF | f | w/w | p.(Arg408Trp)/p.(Arg408Trp) | 8 | 95 | − 0.62 | IDS-2 / 102.46; 12 |
HUB | m | w/w | p.(Arg408Trp)/c.1066-11G > A | 9 | 89 | − 1.12 | IDS-2 / 102.46; 12 |
MIC | m | w/w | c.1066-11G > A/N | 10 | 77 | − 2.12 | IDS-2 / 102.46; 12 |
JUL | f | w/w | p.(Arg408Trp)/N | 10 | 89 | − 1.12 | IDS-2 / 102.46; 12 |
IDA | f | w/w | N/N | 12 | 119 | 1.38 | IDS-2 / 102.46; 12 |
OLI | m | w/w | c.1315 + 1G > A/N | 12 | 98 | − 0.37 | IDS-2 / 102.46; 12 |
MAT | m | w/w | p.(Arg408Trp)/p.(Arg158Gln) | 15 | 87 | − 1.29 | IDS-2 / 102.46; 12 |
Mean = 94.2 | Mean = − 0.68 | ||||||
PB | m | het | p.(Arg408Trp)/p.(Arg408Trp) | 7 | 110 | − 0.22 | WISC-R / 112.5; 11.6 |
KD | m | het | p.(Arg408Trp)/p.(Thr323Ile) | 7 | 94 | − 1.59 | WISC-R / 112.5; 11.6 |
RM | f | het | p.(Arg408Trp)/p.(Arg408Trp) | 8 | 106 | − 0.56 | WISC-R / 112.5; 11.6 |
JN | f | het | p.(Arg408Trp)/p.(Arg408Trp) | 9 | 109 | − 0.3 | WISC-R / 112.5; 11.6 |
LN | f | het | p.(Arg408Trp)/p.(Arg408Trp) | 9 | 82 | − 2.63 | WISC-R / 112.5; 11.6 |
ŚB | m | het | p.(Arg408Trp)/p.(Arg408Trp) | 10 | 122 | 0.82 | WISC-R / 112.5; 11.6 |
AM | m | het | p.(Arg408Trp)/p.(Arg408Trp) | 11 | 107 | − 0.47 | WISC-R / 112.5; 11.6 |
JD | m | het | p.(Arg408Trp)/p.(Arg408Trp) | 11 | 133 | 1.77 | WISC-R / 112.5; 11.6 |
MM | m | het | p.(Arg408Trp)/p.(Arg408Trp) | 11 | 111 | − 0.13 | WISC-R / 112.5; 11.6 |
WK | f | het | p.(Arg408Trp)/p.(Arg408Trp) | 11 | 104 | − 0.73 | WISC-R / 112.5; 11.6 |
DN | f | het | p.(Arg408Trp)/p.(Arg243Gln) | 11 | 127 | 1.25 | WISC-R / 112.5; 11.6 |
GA | f | het | p.(Arg408Trp)/p.(Leu348Val) | 11 | 122 | 0.82 | WISC-R / 112.5; 11.6 |
SM | f | het | p.(Arg408Trp)/p.(Tyr414Cys) | 11 | 123 | 0.91 | WISC-R / 112.5; 11.6 |
ŁM | f | het | p.(Arg408Trp)/p.(Arg408Trp) | 12 | 104 | − 0.73 | WISC-R / 112.5; 11.6 |
SI | f | het | p.(Arg408Trp)/p.(Arg408Trp) | 12 | 122 | 0.82 | WISC-R / 112.5; 11.6 |
UB | m | het | p.(Arg408Trp)/p.(Arg408Trp) | 12 | 103 | − 0.82 | WISC-R / 112.5; 11.6 |
ZD | f | het | p.(Arg408Trp)/p.(Pro281Leu) | 12 | 115 | 0.22 | WISC-R / 112.5; 11.6 |
GN | f | het | p.(Arg408Trp)/p.(Pro407Leu) | 13 | 123 | 0.91 | WISC-R / 112.5; 11.6 |
OM | m | het | IVS10-11 g-a/p.(Arg252Trp) | 13 | 134 | 1.85 | WISC-R / 112.5; 11.6 |
ŹA | f | het | p.(Arg408Trp)/p.(Arg408Trp) | 13 | 113 | 0.04 | WISC-R / 112.5; 11.6 |
ŁŁ | m | het | p.(Arg408Trp)/p.(Arg158Gln) | 13 | 115 | 0.22 | WISC-R / 112.5; 11.6 |
NP | m | het | p.(Arg408Trp)/p.(Arg408Trp) | 14 | 136 | 2.03 | WISC-R / 112.5; 11.6 |
SM | m | het | p.(Arg408Trp)/c.970-2a > c | 14 | 121 | 0.73 | WISC-R / 112.5; 11.6 |
PN | f | homoz | p.(Arg408Trp)/p.(Arg408Trp) | 9 | 124 | 0.99 | WISC-R / 112.5; 11.6 |
OJ | f | homoz | p.(Arg408Trp)/p.(Arg408Trp) | 9 | 127 | 1.25 | WISC-R / 112.5; 11.6 |
SJ | m | homoz | p.(Arg408Trp)/p.(Ile283Phe) | 14 | 111 | − 0.13 | WISC-R / 112.5; 11.6 |
PK | m | homoz | p.(Arg408Trp)/p.(Arg408Trp) | 15 | 119 | 0.56 | WISC-R / 112.5; 11.6 |
Mean = 115.4 | Mean = 0.25 | ||||||
HAN | f | het | c.1066-11G > A/p.(Arg261Gln) | 6 | 108 | 0.46 | IDS-2 / 102.46; 12 |
PAW | m | het | p.(Arg408Trp)/N | 8 | 119 | 1.38 | IDS-2 / 102.46; 12 |
ALA | m | het | p.(Arg408Trp)/N | 8 | 88 | − 1.2 | IDS-2 / 102.46; 12 |
JUL | m | het | p.(Arg408Trp)/p.(Gly272*) | 8 | 91 | − 0.96 | IDS-2 / 102.46; 12 |
OLI | m | het | p.(Arg408Trp)/c.1066-11G > A | 9 | 109 | 0.54 | IDS-2 / 102.46; 12 |
IGO | m | het | p.(Arg408Trp)/p.(Arg158Gln) | 9 | 112 | 0.79 | IDS-2 / 102.46; 12 |
JUL | f | het | p.(Arg408Trp)/p.(Arg408Trp) | 11 | 91 | − 0.96 | IDS-2 / 102.46; 12 |
WOJ | m | het | p.(Arg408Trp)/p.(Arg158Gln) | 15 | 89 | − 1.12 | IDS-2 / 102.46; 12 |
KOR | f | homoz | p.(Arg408Trp)/p.(Gly272*) | 6 | 108 | 0.46 | IDS-2 / 102.46; 12 |
SAN | f | homoz | p.(Arg408Trp)/p.(Gly272*) | 9 | 102 | − 0.04 | IDS-2 / 102.46; 12 |
HEL | f | homoz | p.(Arg408Trp)/N | 11 | 101 | − 0.12 | IDS-2 / 102.46; 12 |
JUL | f | homoz | p.(Arg408Trp)/p.(Arg408Trp) | 16 | 119 | 1.38 | IDS-2 / 102.46; 12 |
Mean = 103.1 | Mean = 0.05 |
