De novo DNM1L variant presenting with severe muscular atrophy, dystonia and sensory neuropathy
EUROPEAN JOURNAL OF MEDICAL GENETICS, vol.64, no.2, 2021 (SCI-Expanded, Scopus)
- Publication Type: Article / Article
- Volume: 64 Issue: 2
- Publication Date: 2021
- Doi Number: 10.1016/j.ejmg.2020.104134
- Journal Name: EUROPEAN JOURNAL OF MEDICAL GENETICS
- Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus, Academic Search Premier, BIOSIS, EMBASE, MEDLINE
- Keywords: DNM1L, DRP1, Sensory polyneuropathy, Muscular atrophy, Mitochondrial fission
- Dokuz Eylül University Affiliated: Yes
Abstract
DNM1L encodes dynamin-related protein 1 (DRP1), a multi-domain GTPase essential for mitochondrial and peroxisomal division. Autosomal dominant and recessive variants in DNM1L cause encephalopathy due to defective mitochondrial and peroxisomal fission 1 (EMPF1), which presents as a complex and clinically heterogeneous neurological disorder of variable severity, often accompanied by seizures. Clinical features are diverse, and no clear phenotype-genotype correlations were drawn to date. DNM1L-related sensory neuropathy has recently been reported as a predominant feature in one case with a de novo variant in the GTPase domain. Herein we present a second case with DNM1L-related sensory neuropathy as the predominant underlying feature without motor neuron involvement, which resulted in severe muscular atrophy and generalized dystonia.