Novel splice‐site and frameshift ATP2A2 mutations in Chinese patients with Darier disease

Darier disease (DD; OMIM 124200) is an autosomal dominant hereditary skin disorder characterized by warty papules and plaques on the seborrhoeic areas of the skin. The cause of DD has been identified in heterozygous mutations in the ATP2A2 gene, which encodes the sarco ⁄ endoplasmic reticulum Ca ATPase isoform (SERCA)2. In the present study, we studied one family and one sporadic patient with DD. The diagnosis was based on the clinical and histopathological findings. The study was approved by Ethical Committee of Wuxi People s Hospital, and all participants provided informed consent. The three-generation family with DD, from Jiangsu province in China, was identified through the proband (Fig. 1), a 58-year-old woman. Hyperkeratotic papules had been present on her scalp since the age of 16 years, and the condition gradually spread to most of her seborrhoeic areas and to her limbs (Fig. 1). The other four affected members in her family had the same clinical features. Sweating and sunlight exacerbated their conditions. The sporadic case was a 70-year-old man, who had a mild clinical phenotype, which had become apparent at the age of 45 years. On histological examination of a biopsy taken from this patient s skin lesion, suprabasal acantholysis of the epidermis was seen, with dyskeratotic cells, corps ronds and grains (Fig. 1). None of the patients in this study had any neuropsychiatric symptoms. A genetic study was performed for all patients. Genomic DNA was extracted from peripheral