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.
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Acknowledgements
The authors would like to thank the family for their participation in this report.
Funding
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).
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Written informed consent was obtained from the legal representative of the subject. Approval was obtained from the Montreal Children’s Hospital and the McGill University Health Centre Research Ethics Boards (11–105-PED and 2019–4972).
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Amytice Mirchi and Alexa Derksen are equally responsible for the work described in this paper
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Mirchi, A., Derksen, A., Tran, L.T. et al. A Cockayne-like phenotype resulting from a de novo variant in MORC2: expanding the phenotype of MORC2-related disorders. Neurogenetics 23, 271–274 (2022). https://doi.org/10.1007/s10048-022-00697-2
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DOI: https://doi.org/10.1007/s10048-022-00697-2