Table 5.
Genetic findings in GT patients
| Patient (sex) | Genotype | Gene | First mutation |
Second mutation |
||
|---|---|---|---|---|---|---|
| location | effect | location | effect | |||
| OK (F) | homozygous | αIIb | exon 5 | T207I | − | − |
| MM (M) | homozygous | αIIb | exon 6 | L214P | − | − |
| MU (F) | heterozygous | αIIb | exon 6 | L214P | − | − |
| DZ (F) | homozygous | αIIb | exon 17 | splicing site | − | − |
| HM (M) | homozygous | αIIb | exon 18 | Q626H | − | − |
| HS (F) | heterozygous | αIIb | exon 18 | Q626H | − | − |
| HA (M) | heterozygous | αIIb | exon 18 | Q626H | − | − |
| TA (M) | homozygous | αIIb | exon 29 | splicing site | − | − |
| TG (M) | homozygous | αIIb | exon 29 | splicing site | − | − |
| TN (F) | heterozygous | αIIb | exon 29 | splicing site | − | − |
| TF (M) | heterozygous | αIIb | exon 29 | splicing site | − | − |
| LN (F) | homozygous | αIIb | exon 29 | splicing site | − | − |
| LH (F) | heterozygous | αIIb | exon 29 | splicing site | − | − |
| LB (M) | heterozygous | αIIb | exon 29 | splicing site | − | − |
| SB (F) | (compound) heterozygous | αIIb | exon 29 | splicing site | unknown | |
| GE (F) | (compound) heterozygous | αIIb | exon 20 | L684R | unknown | |
| CM (F) | heterozygous | αIIb | exon 20 | L684R | − | − |
| WC (M) | (compound) heterozygous | αIIb | exon 22 | ins. out of frame | unknown | |
| WV (F) | heterozygous | αIIb | exon 22 | ins. out of frame | − | − |
| WA (M) | heterozygous | αIIb | unknown | unknown | − | − |
| TE (M) | compound heterozygous | β3 | exon 6 | G286A | exon 9 | frameshift |
| TA (M) | heterozygous | β3 | exon 5 | G286A | − | − |
| GI (F) | heterozygous | β3 | exon 9 | frameshift | − | − |
| YF (M) | homozygous | β3 | exon 10 | G517DelGframeshift | − | − |
| PJ (M) | homozygous | β3 | exon 13 | premature termination | − | − |
F = Female; M = male; ins. = insertion.