De novo DNM1L variant presenting with severe muscular atrophy, dystonia and sensory neuropathy.

De novo DNM1L variant presenting with severe muscular atrophy, dystonia and sensory neuropathy.
Eur J Med Genet. 2020 Dec 30;:104134
Authors: Keller N, Paketci C, Edem P, Thiele H, Yis U, Wirth B, Karakaya M
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.
PMID: 33387674 [PubMed - as supplied by publisher]

Source: European Journal of Medical Genetics - December 30, 2020 Category: Genetics & Stem Cells Authors: Keller N, Paketci C, Edem P, Thiele H, Yis U, Wirth B, Karakaya M Tags: Eur J Med Genet Source Type: research