COLE DISEASE

ENPP1 GENE ANALYSIS

Cole Disease is an autosomal dominant disorder characterised by distinctive cutaneous hypopigmentation and punctate keratosis of the palms and soles.

Variants in ENPP1, which encodes ectonucleotide pyrophosphate/ phosphodiesterase 1, underlie Cole disease (Eytan et al. 2013 Am J Hum Genet 93,4:752-757).

Variants in the ENPP1 gene also cause autosomal recessive Hypophosphatemic Rickets (ARHR type 2) and General Arterial Calcification of Infancy (GACI).

The laboratory participates in the European Molecular Genetics Quality Network (EMQN) sequencing scheme.