Table 1 Clinical samples used for study
From: Bruch’s membrane abnormalities in PRDM5-related brittle cornea syndrome
Clinical samples | Age | Sex | Pathology | PRDM5 mutation | Functional consequence of mutation | Application | Reference |
|---|---|---|---|---|---|---|---|
IHC – human eye | |||||||
WB – skin fibroblasts | |||||||
IF – skin fibroblasts | |||||||
P1 | 10 | M | BCS | Δ 9–14 exons | Shortened, internally deleted protein product | IHC/WB | [4] |
P2 | 21 | F | BCS | Δ 9–14 exons | Shortened, internally deleted protein product | IHC/Q-PCR/WB | [4] |
P3 | 8 | M | BCS | Arg590* | Truncated protein product | Q-PCR/WB | [4] |
P4 | 26 | F | BCS | p.Glu134* | Presumed null | Case report/IF | |
Control post-mortem eye #1 | 70 | F | None | Wild-type | IHC | ||
Control post-mortem eye #2 | 58 | M | None | Wild-type | IHC | ||
Control skin fibroblasts #1 | 12 | M | None | Wild-type | IF/WB | [4] | |
Control skin fibroblasts #2 | 19 | F | None | Wild-type | IF | [4] |