Darier disease: first molecular study of a Portuguese family.

ABSTRACT:

Background

Darier 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.

Objective

Herein we studied the molecular aspect of a two-generation Portuguese family with DD history with clinical variability.

Methods

All exons and intron-exon borders of genomic ATP2A2, as well as coding ATP2A2, were sequenced. Relative levels of SERCA2 mRNA and protein were quantified by qPCR and western bl

SUBMITTER: Almeida A 

PROVIDER: S-EPMC6819764 | biostudies-literature | 2019 Sep

REPOSITORIES: biostudies-literature