LYRM7 mutations cause a multifocal cavitating leukoencephalopathy with distinct MRI appearance

Brain : a Journal of Neurology
Cristina DallabonaEnrico Bertini

Abstract

This study focused on the molecular characterization of patients with leukoencephalopathy associated with a specific biochemical defect of mitochondrial respiratory chain complex III, and explores the impact of a distinct magnetic resonance imaging pattern of leukoencephalopathy to detect biallelic mutations in LYRM7 in patients with biochemically unclassified leukoencephalopathy. 'Targeted resequencing' of a custom panel including genes coding for mitochondrial proteins was performed in patients with complex III deficiency without a molecular genetic diagnosis. Based on brain magnetic resonance imaging findings in these patients, we selected additional patients from a database of unclassified leukoencephalopathies who were scanned for mutations in LYRM7 by Sanger sequencing. Targeted sequencing revealed homozygous mutations in LYRM7, encoding mitochondrial LYR motif-containing protein 7, in four patients from three unrelated families who had a leukoencephalopathy and complex III deficiency. Two subjects harboured previously unreported variants predicted to be damaging, while two siblings carried an already reported pathogenic homozygous missense change. Sanger sequencing performed in the second cohort of patients revealed LYRM...Continue Reading

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Citations

Oct 28, 2016·Journal of Neurology·Alessandra TorracoRosalba Carrozzo
Jan 8, 2018·Journal of Neurology·Roula Ghaoui, Carolyn M Sue
Dec 16, 2017·Cell Cycle·Erika Fernandez-Vizarra, Massimo Zeviani
Feb 22, 2018·Acta neurologica Belgica·Dilek CavusogluPinar Gencpinar
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Mar 17, 2020·Journal of Internal Medicine·Shamima Rahman
Jul 28, 2020·FASEB Journal : Official Publication of the Federation of American Societies for Experimental Biology·Morgan D StrongWinyoo Chowanadisai
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Nov 8, 2020·FEBS Letters·Erika Fernandez-Vizarra, Massimo Zeviani
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Nov 15, 2020·Multiple Sclerosis and Related Disorders·Ajith CherianBejoy Thomas
Jan 14, 2021·International Journal of Molecular Sciences·Margherita Protasoni, Massimo Zeviani
Jul 14, 2021·AJNR. American Journal of Neuroradiology·S D RoosendaalM S van der Knaap
Aug 8, 2021·International Journal of Molecular Sciences·Paola ZanfardinoVittoria Petruzzella

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