No. of patients (this study) | No. of patients [19] | c.-137T > C polymorphism | c.-53C > G polymorphism | c.2097_2098insT genotype |
---|
13 | 8 | TT | CC | - |
3
|
0
|
TC (↓)
|
CC
|
-
|
5 | 1 | TC (↓) | GC (↑) | - |
6 | 15 | TC (↓) | GC (↑) | het |
2 | 1 | CC (↓↓) | GG (↑↑) | hom |
- Het and hom refer to the heterozygous and homozygous presence of the c.2097_2098insT genotype, respectively. Our study identified a new genetic constellation, that is the potentially expression reducing 137T > C transition in the absence of the c.-53C > G transversion (marked in bold). The arrows refer to the expected effect on PEX1 expression [19].