P160L Mutation in the Ca²⁺ ATPase 2A Domain in a Patient with Severe Darier Disease

Abstract

Darier disease (DD) is caused by mutations of the ATP2A2 gene, which encodes the sarco/endoplasmic reticulum Ca²⁺-ATPase isoform 2 (SERCA2). The mutations affect protein expression, degradation and activity. We report a patient with severe sporadic DD, who did not respond adequately to repeated courses of orally administered acitretin and isotretinoin. He was found to harbor the missense P160L mutation of the ATP2A2 gene in a heterozygous state in the A domain of SERCA2 and polymorphism in intron 18 (2741 + 54 G → A). The A domain plays a key role in translocation of Ca²⁺ from cytoplasm to endoplasmic reticulum lumen, thus establishing a low intracellular Ca²⁺ concentration.

Reactional squamous hyperplasia of the foreskin

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“…3 Study materials, including protocol and data, are posted publicly on Open Science Framework. 4 Our search returned 121 articles, of which 76 articles containing 210 superlatives met inclusion criteria. Stem cell therapy treatment options were associated with the highest frequency of superlative use ( Table 1).…”

Is Prurutis Trigger Bandlike Pattern Darier Disease: Positive Koebner Phenomenon?

“…Other findings may include some different nail abnormalities, 'cobblestoning' of the oral mucous membrane, punctate keratoses on the palms and soles, and deteriorated papillary lines. Salivary stones, cysts of the long bones, various neuropsychiatric abnormalities and low IQ levels, any one or more of these features, have been reported in some cases (1). Recently, DD pathogenesis linked to mutations in the gene encoding the sarco-endoplasmic reticulum calcium ATPase pump (SERCA2).…”

Comedonal, cornifying and hypertrophic Darier's disease in the same patient: A Darier combination

“…In some patients, a lower intelligence quotient (IQ) can be observed. Some suffer from various neuropsychiatric abnormalities 1 . DD pathogenesis has recently been linked to mutations in the gene encoding the sarco‐endoplasmic reticulum calcium ATPase pump (SERCA2).…”