Table 1.

Summary of mutations associated with PPKS.

Gene	Mutation	Zygosity	Location	Result	Predicted Effect	Phenotype	Reference
DSG1	IVS 2–1 G→A	Heterozygous	Intron 2	In-frame deletion	Haploinsufficiency	PPKS	Rickman et al., (1999)
DSG1	R26X	Heterozygous	Exon 2	PTC	Haploinsufficiency	PPKS	Hunt et al., (2001)
DSG1	S132X	Heterozygous	Exon 5	PTC	Haploinsufficiency	PPKS	Kljuic et al., (2003)
DSG1	1079insC	Heterozygous	Exon 9	PTC	Haploinsufficiency or Dominant-negative	PPKS	Hunt et al., (2001)
DSG1	Y365X	Heterozygous	Exon 9	PTC	Haploinsufficiency or Dominant-negative	PPKS	Hunt et al., (2001)
DSG1	1189delA	Heterozygous	Exon 9	PTC	Haploinsufficiency or Dominant-negative	PPKS	Hunt et al., (2001)
DSG1	1627delA	Heterozygous	Exon 11	PTC	Haploinsufficiency or Dominant-negative	PPKS	Hunt et al., (2001)
DSG1	121insT	Heterozygous	Exon 3	PTC	Haploinsufficiency	Focal, non- striated PPKa	Milingou et al., (2006)
DSG1	1688 –1 G→T	Heterozygous	Intron 11	Out-of- frame deletion	Haploinsufficiency	PPKS	Present study
DP	8804 C→T	Heterozygous	Exon 4	PTC	Haploinsufficiency	PPKS	Armstrong et al., (1999)
DP	939+1 G→A	Heterozygous	Intron 7	PTC	Haploinsufficiency	PPKS	Whittock et al., (1999)
DP	7901delG	Homozygous	Exon 24	PTC	Impaired protein function	Generalized PPKS, WH, DLVC	Norgett et al., (2000)
DP	608ins30bp	Heterozygous	Exon 14	In-frame insertion	Haploinsufficiency or Dominant-negative	PPKS, WH, Cardiomyopathy	Norgett et al, (2006)
K1	1628delG	Heterozygous	Exon 9	Out-of- frame deletion	Dominant negative	PPKS	Whittock et al., (2002)

^aThough this case involves a DSG1 mutation associated with PPK, this is the only case listed in this table that is not a case of PPKS.

Abbreviations: DSG1 = Desmoglein 1; DP = Desmoplakin; K1 = Keratin 1; PTC = Premature Termination Codon; PPKS = Striate Palmoplantar Keratoderma; WH = Wooly Hair; DLVC = Dialated Left Ventricular Cardiomyopathy.