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Article

Homozygous MFN2 variants causing severe antenatal encephalopathy with clumped mitochondria.

Brain : a journal of neurology - 4 Jan 2024

Chevrollier Arnaud, Bonnard Adeline Alice, Ruaud Lyse, Gueguen Naïg, Perrin Laurence, Desquiret-Dumas Valérie, Guimiot Fabien, Becker Pierre-Hadrien, Levy Jonathan, Reynier Pascal, Gaignard Pauline

Abstract excerpt

Pathogenic variants in the MFN2 gene are commonly associated with autosomal dominant (CMT2A2A) or recessive (CMT2A2B) Charcot-Marie-Tooth disease, with possible involvement of the CNS. Here, we present a case of severe antenatal encephalopathy with lissencephaly, polymicrogyria and cerebellar atrophy. Whole genome analysis revealed a homozygous deletion c.1717-274_1734 del (NM_014874.4) in the MFN2 gene, leading...

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PMID: 37804319
DOI: 10.1093/brain/awad347

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