Dilated cardiomyopathy is a part of the ARV1-associated phenotype: a case report.

ABSTRACT:

Background

ACAT-related enzyme 2 required for viability 1 (ARV1) encodes a transmembrane lipid transporter of the endoplasmic reticulum, which is presented in all eukaryotes and in plants. Deficiency of ARV1 is clinically presented as autosomal recessive developmental and epileptic encephalopathy 38 (DEE38) in humans and in mice. So far, three different homozygous and two compound heterozygous ARV1 mutations in humans have been reported in 15 children.

Case presentation

In this case report we present a novel homozygous in-frame ARV1-deletion (c.554_556delTAT, p.L185del) in a 21-year old Caucasian man with developmental delay, intellectual disability, seizures, walking and speech impairments, as well as with a dilated cardiomyopathy (DCM), which has not yet been firmly relate

SUBMITTER: Karabinos A 

PROVIDER: S-EPMC8886762 | biostudies-literature | 2022 Feb

REPOSITORIES: biostudies-literature