Darier disease: first molecular study of a Portuguese family

摘要

BackgroundDarier disease (DD) is a rare autosomal dominant condition characterized by skin lesions. Additionally, a wide range of neuropsychiatric symptoms is frequently reported in DD patients. This genodermatosis relies on mutations in the ATPase sarcoplasmic/endoplasmic reticulum Ca²⁺ transporting 2 (ATP2A2) gene, which encodes an ATPase responsible for pumping Ca²⁺ from the cytosol to the lumen of the ER.