Table 1.
Patients’ fibroblasts analyzed in the study.
| Gene | Protein Defect $ | OI Type # | Gender | Age § | PPERK/PERK | LC3II+ Chloroquine |
CleavedCasp3 |
|---|---|---|---|---|---|---|---|
| COL1A1 | α1(I)-G226S | III | M | 8 m | ↑ | ↑ | ↑ |
| COL1A1 | α 1(I)-G478S | II | M | 0 m | ↑ | ↑ | ↑ |
| COL1A1 | α 1(I)-G994D | II | M | f | ↑ | ↑ | ↑ |
| COL1A2 | α 2(I)-G640C | II/III * | M | 6 m | ~ | ~ | ↑ |
| COL1A2 | α 2(I)-G697C | II | F | 1 m | ↑ | ↑ | ↑ |
| COL1A2 | α 2(I)-G745C | III | M | 3 y | ↑ | ~ | ↑ |
* The patients died at 6 m for cardiorespiratory failure; $ amino acid number considering the initial methionine codon as amino acid; # OI type based on Sillence’s classification; § m: month; y: year; f: fetus.