Table 2 Polymorphic changes identified in PAX6, PITX3 and HSF4 genes in the studied patients from the four Tunisian families (F1, F2, F3, and F4)
Familles | Patients | PAX6 intronic variations | PITX3 subtitution polymorphisms | HSF4 intronic variation | ||||
|---|---|---|---|---|---|---|---|---|
IVS4 -274insG | IVS12 -174G>A | IVS4 -195G>A | c.439 C>T (exon 3) | c.930 C>A (exon 4) | IVS7 +93C>T | |||
F1 | III9 | homozygous | heterozygous | wild type | heterozygous | heterozygous | heterozygous | |
IV13 | homozygous | homozygous | wild type | heterozygous | heterozygous | heterozygous | ||
IV14 | homozygous | homozygous | wild type | wild type | heterozygous | wild type | ||
IV16 | homozygous | homozygous | wild type | wild type | heterozygous | wild type | ||
F2 | III19 | homozygous | heterozygous | wild type | wild type | wild type | wild type | |
III20 | homozygous | homozygous | wild type | wild type | wild type | wild type | ||
IV35 | homozygous | homozygous | wild type | wild type | wild type | wild type | ||
IV36 | homozygous | homozygous | wild type | wild type | wild type | wild type | ||
IV37 | homozygous | homozygous | wild type | wild type | wild type | wild type | ||
F3 | III9 | homozygous | heterozygous | heterozygous | wild type | wild type | wild type | |
III10 | homozygous | heterozygous | heterozygous | wild type | wild type | wild type | ||
IV11 | homozygous | heterozygous | wild type | wild type | wild type | wild type | ||
IV12 | homozygous | heterozygous | heterozygous | wild type | wild type | wild type | ||
F4 | III7 | homozygous | heterozygous | heterozygous | wild type | wild type | wild type | |
III8 | homozygous | heterozygous | heterozygous | wild type | wild type | wild type | ||
IV10 | homozygous | wild type | homozygous | wild type | wild type | wild type | ||
IV11 | homozygous | heterozygous | heterozygous | wild type | wild type | wild type | ||