Neuropathological hallmarks of antenatal mitochondrial diseases with a corpus callosum defect.

Autor:	Boutaud L; Genomic medicine of rare diseases, UF MP5, Necker-enfants Malades Hospital, Assistance Publique Hôpitaux de Paris (AP-HP), 75015 Paris, France.; Genetics and development of the cerebral cortex, Université Paris Cité, Imagine institute, 75015 Paris, France.; Embryology and genetics of human malformations, Université Paris Cité, Imagine institute, Inserm UMR 1163, 75015 Paris, France., Ruzzenente B; Genetics of mitochondrial disorders, Université Paris Cité, Imagine Institute, Inserm UMR 1163, 75015 Paris, France., Tessier A; Genomic medicine of rare diseases, UF MP5, Necker-enfants Malades Hospital, Assistance Publique Hôpitaux de Paris (AP-HP), 75015 Paris, France., Anselem O; Port-Royal Maternity Department, Cochin Hospital, 75014 Paris, France., Pannier E; Port-Royal Maternity Department, Cochin Hospital, 75014 Paris, France., Grotto S; Port-Royal Maternity Department, Cochin Hospital, 75014 Paris, France., Talhi N; Pathological Anatomy and Cytology, Centre Hospitalier Intercommunal de Créteil, 94000 Créteil, France., Amram D; Medical Genetics Department, Centre Hospitalier Intercommunal de Créteil, 94000 Créteil, France., Willems M; Medical Genetics Department, Reference Center AD SOOR, AnDDI-RARE, Inserm U1298, INM, Montpellier University, Montpellier university Hospital, 34295 Montpellier, France., Wells C; Medical Genetics Department, Montpellier university Hospital, 34295 Montpellier, France.; Pathological Anatomy and Cytology, Montpellier university Hospital, 34295 Montpellier, France., Blanchet P; Pathological Anatomy and Cytology, Montpellier university Hospital, 34295 Montpellier, France., Musizzano Y; Pathological Anatomy and Cytology, Montpellier university Hospital, 34295 Montpellier, France., Jauny C; Port-Royal Maternity Department, Cochin Hospital, 75014 Paris, France., Nitschke P; Bioinformatics platform, Structure Fédérative de Recherche de Necker, Université Paris Cité, Institut Imagine, Inserm UMR 1163, 75015 Paris, France., Bole-Feysot C; Genomics Core Facility, Institut Imagine-Structure Fédérative de Recherche Necker, INSERM U1163 et INSERM US24/CNRS UAR3633, Paris Descartes Sorbonne Paris Cite University, 75015 Paris, France., Bessières B; Genomic medicine of rare diseases, UF MP5, Necker-enfants Malades Hospital, Assistance Publique Hôpitaux de Paris (AP-HP), 75015 Paris, France., Salhi H; Genomic medicine of rare diseases, UF MP5, Necker-enfants Malades Hospital, Assistance Publique Hôpitaux de Paris (AP-HP), 75015 Paris, France., Achaiaa A; Genomic medicine of rare diseases, UF MP5, Necker-enfants Malades Hospital, Assistance Publique Hôpitaux de Paris (AP-HP), 75015 Paris, France., Metodiev MD; Genetics of mitochondrial disorders, Université Paris Cité, Imagine Institute, Inserm UMR 1163, 75015 Paris, France., Razavi F; Genomic medicine of rare diseases, UF MP5, Necker-enfants Malades Hospital, Assistance Publique Hôpitaux de Paris (AP-HP), 75015 Paris, France., Rötig A; Genetics of mitochondrial disorders, Université Paris Cité, Imagine Institute, Inserm UMR 1163, 75015 Paris, France., Loeuilllet L; Genomic medicine of rare diseases, UF MP5, Necker-enfants Malades Hospital, Assistance Publique Hôpitaux de Paris (AP-HP), 75015 Paris, France., Attié-Bitach T; Genomic medicine of rare diseases, UF MP5, Necker-enfants Malades Hospital, Assistance Publique Hôpitaux de Paris (AP-HP), 75015 Paris, France.; Genetics and development of the cerebral cortex, Université Paris Cité, Imagine institute, 75015 Paris, France.
Jazyk:	angličtina
Zdroj:	Brain : a journal of neurology [Brain] 2023 May 02; Vol. 146 (5), pp. 1804-1811.
DOI:	10.1093/brain/awac417
Abstrakt:	Corpus callosum defects are frequent congenital cerebral disorders caused by mutations in more than 300 genes. These include genes implicated in corpus callosum development or function, as well as genes essential for mitochondrial physiology. However, in utero corpus callosum anomalies rarely raise a suspicion of mitochondrial disease and are characterized by a very large clinical heterogeneity. Here, we report a detailed pathological and neuro-histopathological investigation of nine foetuses from four unrelated families with prenatal onset of corpus callosum anomalies, sometimes associated with other cerebral or extra-cerebral defects. Next generation sequencing allowed the identification of novel pathogenic variants in three different nuclear genes previously reported in mitochondrial diseases: TIMMDC1, encoding a Complex I assembly factor never involved before in corpus callosum defect; MRPS22, a protein of the small mitoribosomal subunit; and EARS2, the mitochondrial tRNA-glutamyl synthetase. The present report describes the antenatal histopathological findings in mitochondrial diseases and expands the genetic spectrum of antenatal corpus callosum anomalies establishing OXPHOS function as an important factor for corpus callosum biogenesis. We propose that, when observed, antenatal corpus callosum anomalies should raise suspicion of mitochondrial disease and prenatal genetic counselling should be considered. (© The Author(s) 2022. Published by Oxford University Press on behalf of the Guarantors of Brain. All rights reserved. For permissions, please e-mail: journals.permissions@oup.com.)
Databáze:	MEDLINE
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