The Desmosomal Plaque Proteins of the Plakophilin Family

Table 1

Published cases of EDSF syndrome with clinical features and observed mutations in PKP 1 gene.

Case^1	Clinicopathological findings					Observed mutations^2	Reference
	Epidermal fragility	Hyperkeratosis on palms/soles	Alopecia	Nail dysplasia	Hypohidrosis
1	yes	yes	yes	yes	yes	(a) p.Q304X (b) c.1132ins28	[29]
2	yes	yes	yes	yes	yes	(a) p.Y71X (b) IVS1−1G>A	[31]
3	yes	yes	yes	yes	no	IVS6−2A>T	[32]
4	yes	yes	yes	yes	yes	IVS11+1G>A	[30]
5	yes	no	yes	yes	no	IVS4−2A>G	[33]
6	yes	yes	yes	yes	not observed	IVS1−1G>A	[33]
7	yes	yes	no	yes	no	IVS9+1G>A	[34]
8	yes	yes	yes	yes	no	(a) c.1053T>A +IVS5+1G>A (b) IVS10−2G>T	[35]
9	yes	yes	yes	yes	no	c.888delC	[36]
10	yes	yes	yes	yes	not observed	p.R672X	[37]

¹ Numbering of the case correlates to the positions of mutations shown in Figure 2.
² For compound heterozygosity, mutations of both alleles are given as (a) and (b).