The ATP2A2 gene in patients with Darier's disease: one novel splicing mutation.

BACKGROUND: Darier's disease (DD) is a rare, inherited skin disorder characterized by warty papules and plaques over the seborrheic area, such as central trunk, flexures, scalp, and forehead. Mutations in ATP2A2 gene encoding the enzyme sarco/endoplasmic reticulum Ca(2+) ATPase type 2 are responsible for the disease. Here we report two Chinese families affected by DD with two ATP2A2 mutations.

MATERIALS AND METHODS: DNA was extracted from the peripheral blood samples and then subjected to polymerase chain reaction amplification and direct automated DNA sequencing.

RESULTS: A heterozygous G to T transition in the first nucleotide of intron 7 (c.630 + 1G>T) and G to A transversion at nucleotide 2898 in exon 20 of the ATP2A2 gene were identified in two pedigrees, respectively. The former mutation in the splice site is a novel mutation and is thought to lead to aberrant splicing and premature protein truncation. The latter has already been described, which leads to premature termination codons (PTC) (W966X).

CONCLUSION: The results will contribute to the expanding database of ATP2A2 mutations in patients with DD and be useful for inherited counseling and prenatal examination for affected families.