DNM1L variant presenting as adolescent-onset sensory neuronopathy, spasticity, dystonia, and ataxia.
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Abstract | encodes for dynamin-like protein 1 (DLP1) which plays a key role in perixosomal and mitochondrial fission. Individuals with heterozygous variants in present with a wide range of neurologic symptoms, including encephalopathy, epilepsy, and motor deficits. Here we report on a woman presenting with adolescence onset of sensory neuronopathy, spasticity, dystonia, and ataxia. Trio genome sequencing identified a heterozygous variant in (NM_012062.3 c.121G>A/p.Val41Met) which was thought to be pathogenic. This case describes the latest known symptomatic onset of related disease described in literature. We highlight our approach to a challenging diagnostic workup and interpretation of a specific variant that has not been previously reported. Furthermore, the case highlights the diagnostic importance of utilizing genomic sequencing and research studies for patients with rare disease. |
Year of Publication | 2023
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Journal | Journal of pediatric neurology : JPN
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Volume | 21
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Issue | 6
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Pages | 475-478
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Date Published | 12/2023
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ISSN | 1304-2580
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DOI | 10.1055/s-0043-1771352
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PubMed ID | 38481935
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