Table 1.

Examples of genes associated with skin disease discovered using exome sequencing technology.

Gene	Disease	Mode of Inheritance	Reference
AAGAB	Punctate palmoplantar keratoderma Type I	AD	[51,52]
ADAM10	Reticulate acropigmentation of Kitamura	AD	[53]
AQP5	Nonepidermolytic palmoplantar keratoderma	AD	[54]
ENPP1	Cole disease	AD	[55]
EXPH5	Inherited skin fragility	AR	[56]
HOXC13	Pure hair and nail ectodermal dysplasia	AR	[57]
KANK2	Palmoplantar keratoderma and woolly hair	AR	[58]
MBTPS2	Olmsted syndrome	XLR	[48]
POFUT1	Dowling-Degos disease	AD	[59]
POGLUT1	Dowling-Degos disease	AD	[60]
SERPINB7	Nagashima-type palmoplantar keratosis	AR	[61]
TRPV3	Olmsted syndrome	AD/AR	[47]/[62]

AD: autosomal dominant; AR: autosomal recessive; XLR: X-linked recessive.