Table 1.

Desmoplakin gene mutations affecting the C-terminal domain of desmoplakin

Clinical symptoms	Inheritance	Exon(s)	Sequence changes	Amino acid change	Reference
Woolly hair/PPK/left ventricular cardiomyopathy	Recessive	24/24	7901delG 7901delG	Frameshift and PTC	Norgett et al. (2000)
Woolly hair, skin fragility	Recessive	15/24	1990C>T 7096C>T	Q664X/R2366C	Whittock et al. (2002)
ARVC/D, woolly hair, dry skin, acantholysis in palms, soles, and knees	Recessive	24	7402G<C	G2375R	Alcalai et al. (2003)
ARVC/D	Dominant	Intron 3 splicing	Skipping of exon 4	PTC	Bauce et al. (2005)
Lethal acantholytic EB	Recessive	24/24	6079C>T 6370delTT	R1934X/PTC	Jonkman et al. (2005)
ARVC/D	Dominant	24	8501G>A	R2834H	Yang et al. (2006)
ARVC/D	Dominant	24	7516G>A	R2339Q	Yu et al. (2008)
Woolly hair/PPK/biventricular cardiomyopathy	Recessive	18/23	2516del4/ 3971del4	Frameshift and PTC	Tanaka et al. (2009)
Woolly hair/PPK/mucocutaneous blistering/biventricular cardiomyopathy	Recessive	24/24	7964C>A 6310delA	A2655D/PTC	This study

Abbreviations: ARVC/D, arrhythmogenic right ventricular dilation/cardiomyopathy; PPK, palmoplantar keratoderma; PTC, premature termination codon.