AUTHOR=Kodal Louise Sloth , Hammer-Hansen Sophia , Holm-Yildiz Sonja , Grønskov Karen , Karstensen Helena Gásdal , Dysgaard Tina 

TITLE=Case report: A novel variant in SLC25A46 causing sensorimotor polyneuropathy and optic atrophy

JOURNAL=Frontiers in Neurology

VOLUME=13

YEAR=2022

URL=https://www.frontiersin.org/journals/neurology/articles/10.3389/fneur.2022.1066040

DOI=10.3389/fneur.2022.1066040

ISSN=1664-2295

ABSTRACT=<p><italic>SLC25A46</italic> is a mitochondrial protein involved in mitochondrial dynamics. Recently, bi-allelic variants have been identified as a pathogenic cause in a spectrum of neurological syndromes. We report a novel homozygous <italic>SLC25A46</italic> variant in two siblings, originating from Iraq. Both presented with optic atrophy and varying neurological symptoms. The neurological examination and nerve conduction studies were consistent with sensorimotor polyneuropathy, one having mild polyneuropathy and the other pronounced polyneuropathy. The cases illustrate the disease spectrum and provide substantial information to the knowledge of polyneuropathy caused by <italic>SLC25A46</italic> variants. It further highlights the diagnostic potentials of whole exome sequencing which can improve future understanding of disease mechanisms.</p>