A novel variant of DNM1L expanding the clinical phenotypic spectrum: a case report and literature review.

ABSTRACT:

Background

Mitochondrial diseases are heterogeneous in terms of clinical manifestations and genetic characteristics. The dynamin 1-like gene (DNM1L) encodes dynamin-related protein 1 (DRP1), a member of the GTPases dynamin superfamily responsible for mitochondrial and peroxisomal fission. DNM1L variants can lead to mitochondrial fission dysfunction.

Case presentation

Herein, we report a distinctive clinical phenotype associated with a novel variant of DNM1L and review the relevant literature. A 5-year-old girl presented with paroxysmal hemiplegia, astigmatism, and strabismus. Levocarnitine and coenzyme Q₁₀ supplement showed good efficacy. Based on the patient's clinical data, trio whole-exome sequencing (trio-WES) and mtDNA sequencing were performed to identify th

SUBMITTER: Zhang Z 

PROVIDER: S-EPMC10858475 | biostudies-literature | 2024 Feb

REPOSITORIES: biostudies-literature