期刊
EUROPEAN JOURNAL OF MEDICAL GENETICS
卷 64, 期 2, 页码 -出版社
ELSEVIER
DOI: 10.1016/j.ejmg.2020.104134
关键词
DNM1L; DRP1; Sensory polyneuropathy; Muscular atrophy; Mitochondrial fission
资金
- Deutsche Forschungsgemeinschaft [Wi 945/19-1]
- CMMC [C18]
- Koln-Fortune doctoral fellowship
- CMMC clinical scientist award
Variants in the DNM1L gene cause a complex and clinically heterogeneous neurological disorder often accompanied by seizures, with no clear phenotype-genotype correlations drawn to date. Sensory neuropathy has been reported as a predominant feature in some cases, leading to severe muscular atrophy and generalized dystonia.
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.
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