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Case report: A novel variant in SLC25A46 causing sensorimotor polyneuropathy and optic atrophy
Louise Sloth Kodal1, Sophia Hammer-Hansen2, Sonja Holm-Yildiz1
1Department of Neurology, Copenhagen Neuromuscular Center, Rigshospitalet, University of Copenhagen, Copenhagen, Denmark.
Frontiers in Neurology
|December 29, 2022
Summary
A novel homozygous SLC25A46 variant causes neurological syndromes, including optic atrophy and sensorimotor polyneuropathy. This finding expands knowledge of SLC25A46-related disorders and highlights diagnostic potential.
Area of Science:
- Genetics
- Neuroscience
- Mitochondrial Biology
Background:
- Mitochondrial protein SLC25A46 plays a role in mitochondrial dynamics.
- Bi-allelic variants in SLC25A46 are linked to various neurological syndromes.
Observation:
- A novel homozygous SLC25A46 variant was identified in two siblings from Iraq.
- Both siblings presented with optic atrophy and diverse neurological symptoms.
- Neurological examination and nerve conduction studies indicated sensorimotor polyneuropathy, varying in severity.
Findings:
- The study details the clinical presentation and genetic findings in siblings with a new SLC25A46 variant.
- Confirmed sensorimotor polyneuropathy associated with SLC25A46 variants, illustrating the disease spectrum.
Implications:
- This research expands the understanding of polyneuropathy caused by SLC25A46 variants.
- Highlights the diagnostic utility of whole exome sequencing for identifying genetic neurological disorders.
- Provides insights into the disease mechanisms underlying SLC25A46-related neurological conditions.
