Table 3.
PEX Gene Screen (PGS) Results: 91 patients total
| Gene | Patients with one mutation (PGS) | Patients with two mutations (PGS) | Total (at least one mutation PGS) | Newly identified cases by current study | % cases (at least one mutation by PGS and/or sequencing)a |
|---|---|---|---|---|---|
| PEX1 | 16 | 32 | 48 | 6 | 58.2 |
| PEX6 | 0 | 4 | 4 | 5 | 9.9 |
| PEX10 | 0 | 3 | 3 | 0 | 3.3 |
| PEX12 | 1b | 6 | 7 | 1 | 7.7 |
| PEX26 | 0 | 5 | 5 | 0 | 5.5 |
| PEX2 | 0 | 5 | 5 | 0c | 5.5 |
| PEX5 | 0 | 1 | 1 | 0c | 1.1 |
|
| |||||
| Total | 17 | 56 | 73 | 12 | 91.2 |
a
Cases with deleterious alleles detected in multiple PEX genes are counted a single time based on the assigned diagnosis provided in Table 1
b
The current study identified a PEX6 defect by sequencing and complementation analyses
c
The current study does not screen for PEX2 or PEX5 mutations