De Novo <i>DNM1L</i> Pathogenic Variant Associated with Lethal Encephalocardiomyopathy-Case Report and Literature Review.

ABSTRACT: Pathogenic variants in DNM1L, encoding dynamin-like protein-1 (DRP1), cause a lethal encephalopathy. DRP1 defective function results in altered mitochondrial networks, characterized by elongated/spaghetti-like, highly interconnected mitochondria. We validated in yeast the pathogenicity of a de novo DNM1L variant identified by whole exome sequencing performed more than 10 years after the patient's death. Meanwhile, we reviewed the broadness and specificities of DNM1L-related phenotype. The patient, who exhibited developmental delay in her third year, developed a therapy-refractory myoclonic status epilepticus, followed by neurological deterioration with brain atrophy and refractory epilepsy. She died of heart failure due to hypertrophic cardiomyopathy. She was found to

SUBMITTER: Magistrati M 

PROVIDER: S-EPMC11765995 | biostudies-literature | 2025 Jan

REPOSITORIES: biostudies-literature