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Expanding the spectrum of Darier Disease variants: 13 novel ATP2A2 genetic variations discovered in an Italian retrospective analysis.

Gene - 10 May 2026

Stefani Chiara, de Gemmis Paola, Cattelan Paola, Tibaudo Lucia, Stagni Camilla, De Sensi Erika, Ambrosini Enrico, Percesepe Antonio, Segat Daniela, Lonigro Incoronata

Abstract excerpt

Darier Disease (DD) is a rare autosomal dominant genodermatosis (prevalence: 1/30.000-100.000) characterized by hyperkeratotic papules in seborrheic areas, palmoplantar pits, distinctive nail dystrophy and in some cases neurological symptoms. ATP2A2, encoding for the sarco/endoplasmic reticulum calcium transporting ATPase2 (SERCA2), is the causative gene of DD. It is characterized by high penetrance but variable...

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Codon, Nonsense
Darier Disease
Exons
Genetic Variation
Italy

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Mutation, Missense

Sarcoplasmic Reticulum Calcium-Transporting ATPases

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PMID: 41747876
DOI: 10.1016/j.gene.2026.150071

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ATP2A2

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026.

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