A Cockayne-like phenotype resulting from a de novo variant in MORC2: expanding the phenotype of MORC2-related disorders

Amytice Mirchi, Alexa Derksen, Luan T. Tran, Isabelle De Bie, Amélie Nadeau, Audrey Lovett, Anja Raams, Wim Vermeulen, Arjan F. Theil, Geneviève Bernard*

*Corresponding author for this work

Research output: Contribution to journalArticleAcademicpeer-review

Abstract

Cockayne syndrome is a rare inherited DNA repair multisystemic disorder. Here, we aim to raise awareness of the phenotypic resemblances between Cockayne syndrome and the neurodevelopmental disorder caused by pathogenic variants in MORC2, a gene also involved in DNA repair. Using exome sequencing, we identified a de novo pathogenic variant in MORC2 in our patient. Our patient’s phenotype was characterized by multiple features evocative of Cockayne syndrome. Based on our patient’s phenotype, in addition to the phenotypic description of patients with pathogenic variants in MORC2 reported in the literature, we suggest that pathogenic variants in this gene are associated with a Cockayne-like phenotype.

Original languageEnglish
Pages (from-to)271-274
Number of pages4
JournalNeurogenetics
Volume23
Issue number4
Early online date3 Aug 2022
DOIs
Publication statusPublished - Oct 2022

Bibliographical note

Funding Information:
This study was funded by grants from the Canadian Institutes of Health Research (377869 and 426534). This research was enabled in part by support provided by Compute Canada ( www.computecanada.ca ). The authors also wish to acknowledge the McGill University and Genome Quebec Innovation Center. A. Derksen is supported by the Canadian Institutes of Health Research (CIHR) Canadian Graduates Scholarships - Master’s, the Fondation du Grand Defi Pierre Lavoie Master’s Scholarship, and Heathy Brains for Healthy Lives Master’s Fellowship. G. Bernard has received the Clinical Research Scholar Junior 1 award from the Fonds de Recherche du Quebec - Santé (FRQS) (2012–2016), the New Investigator Salary Award from the CIHR (2017–2022) and the Clinical Research Scholar Senior award from the FRQS (2022–2025). W. Vermeulen, A.F. Theil, and A. Raams are supported by grants from European Research Council Advanced grant (340988) and Oncode Institute (partly financed by the Dutch Cancer Society).

Publisher Copyright:
© 2022, The Author(s), under exclusive licence to Springer-Verlag GmbH Germany, part of Springer Nature.

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