A De Novo <i>DNM1L</i> Mutation in Twins with Variable Symptoms, Including Paraparesis and Optic Neuropathy.

ABSTRACT: Mitochondrial network dynamics, encompassing processes like fission, fusion, and mitophagy, are crucial for mitochondrial function and overall cellular health. Dysregulation of these processes has been linked to various human diseases. Particularly, pathogenic variants in the gene DNM1L can lead to a broad range of clinical phenotypes, ranging from isolated optic atrophy to severe neurological conditions. DNM1L encodes DRP1 (dynamin-1-like protein), which is a key player in mitochondrial and peroxisomal fission. This study describes two twin sisters with a de novo heterozygous variant in DNM1L, due to possible paternal germline mosaicism identified through clinical exome sequencing. The two twins showed a variable clinical presentation, including paraparesis and optic

SUBMITTER: Nasca A 

PROVIDER: S-EPMC12467091 | biostudies-literature | 2025 Aug

REPOSITORIES: biostudies-literature