Table 1.

Clinical samples used for study

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]

IHC Immunohistochemistry, WB Western blotting, IF Immunofluorescence