Table 1 Pathogenic variants identified in the MMACHC/PRDX1 genes of epi-cblC patients
Pt | Italian origin | Diagnosis (age) | Variant 1 | Origin of variant 1 | Variant 2 | Origin of variant 2 | Epimutation in MMACHC | Age at epi-cblC molecular diagnosis | Onset |
|---|---|---|---|---|---|---|---|---|---|
1 | Central | C/B (10 d) | MMACHC:c.271dupA p.(Arg91Lysfs*14) | Paternal | PRDX1:c.515-1G > T | Maternal | Het | 10 y | Early |
2 | Central | NBS (6 d) | MMACHC:c.666C > A p.(Tyr222*) | Paternal | PRDX1:c.515-1G > T | Maternal | Het | 8 y | Early |
3 | Southern | C/B (16 d) | MMACHC:c.271dupA p.(Arg91Lysfs*14) | Paternal | PRDX1:c.515-1G > T | Maternal | Het | 11 y | Early |
4a | Southern | C/B (2 m) | MMACHC:c.666C > A p.(Tyr222*) | Maternal | PRDX1:c.515-1G > T | Paternal | Het | ND | Early |
5 | Northern | C/B (2 m) | MMACHC:c.331C > T p.(Arg111*) | Paternal | PRDX1:c.515-1G > T | Maternal | Het | 10 y | Early |
6 | Northern | C/B (6 m) | MMACHC:c.481C > T p.(Arg161*) | Paternal | PRDX1:c.515-1G > T | Maternal | Het | 6 y | Early |
7 | Southern | NBS (1 m) | MMACHC:c.271dupA p.(Arg91Lysfs*14) | Paternal | PRDX1:c.515-1G > T | Maternal | Het | 7 y | Early |
8 | Southern | C/B (1 m) | MMACHC:c.271dupA p.(Arg91Lysfs*14) | Maternal | PRDX1:c.515-1G > T | Paternal | Het | 18 y | Early |
9 | Northern | NBS (4 d) | MMACHC:c.271dupA p.(Arg91Lysfs*14) | Maternal | PRDX1:c.515-1G > T | Paternal | Hetb | 2 y | Early |
10 | Northern | C/B (63 y) | MMACHC:c.617G > A p.(Arg206Gln) | ND | PRDX1:c.515-1G > T | ND | Het | 75 y | Late |
11 | Central | NBS (4 d) | PRDX1:c.515-1G > T | Paternal | PRDX1:c.515-1G > T | Maternal | Hom | 7 y | Early |