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Abstract

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.

Details

Title
A Cockayne-like phenotype resulting from a de novo variant in MORC2: expanding the phenotype of MORC2-related disorders
Author
Mirchi, Amytice 1 ; Derksen, Alexa 2 ; Tran, Luan T. 2 ; De Bie, Isabelle 3 ; Nadeau, Amélie 4 ; Lovett, Audrey 5 ; Raams, Anja 6 ; Vermeulen, Wim 6 ; Theil, Arjan F. 6 ; Bernard, Geneviève 7 

1  McGill University, Department of Neurology and Neurosurgery, Montreal, Canada (GRID:grid.14709.3b) (ISNI:0000 0004 1936 8649); McGill University, Department of Pediatrics, Montreal, Canada (GRID:grid.14709.3b) (ISNI:0000 0004 1936 8649); Research Institute of the McGill University Health Centre, Child Health and Human Development Program, Montreal, Canada (GRID:grid.63984.30) (ISNI:0000 0000 9064 4811) 
2  McGill University, Department of Neurology and Neurosurgery, Montreal, Canada (GRID:grid.14709.3b) (ISNI:0000 0004 1936 8649); Research Institute of the McGill University Health Centre, Child Health and Human Development Program, Montreal, Canada (GRID:grid.63984.30) (ISNI:0000 0000 9064 4811) 
3  McGill University, Department of Human Genetics, Montreal, Canada (GRID:grid.14709.3b) (ISNI:0000 0004 1936 8649); McGill University, Department of Specialized Medicine, Division of Medical Genetics, Montreal, Canada (GRID:grid.14709.3b) (ISNI:0000 0004 1936 8649); McGill University Health Centre, Department of Laboratory Medicine, Montreal, Canada (GRID:grid.63984.30) (ISNI:0000 0000 9064 4811) 
4  Université de Sherbrooke, Department of Pediatrics, Division of Pediatric Neurology, Sherbrooke, Canada (GRID:grid.86715.3d) (ISNI:0000 0000 9064 6198) 
5  McGill University, Department of Pediatrics, Montreal, Canada (GRID:grid.14709.3b) (ISNI:0000 0004 1936 8649); McGill University, Department of Dermatology, Montreal, Canada (GRID:grid.14709.3b) (ISNI:0000 0004 1936 8649) 
6  Erasmus MC, University Medical Center Rotterdam, Department of Molecular Genetics, Oncode Institute, Rotterdam, The Netherlands (GRID:grid.5645.2) (ISNI:000000040459992X) 
7  McGill University, Department of Neurology and Neurosurgery, Montreal, Canada (GRID:grid.14709.3b) (ISNI:0000 0004 1936 8649); McGill University, Department of Pediatrics, Montreal, Canada (GRID:grid.14709.3b) (ISNI:0000 0004 1936 8649); Research Institute of the McGill University Health Centre, Child Health and Human Development Program, Montreal, Canada (GRID:grid.63984.30) (ISNI:0000 0000 9064 4811); McGill University, Department of Human Genetics, Montreal, Canada (GRID:grid.14709.3b) (ISNI:0000 0004 1936 8649); McGill University, Department of Specialized Medicine, Division of Medical Genetics, Montreal, Canada (GRID:grid.14709.3b) (ISNI:0000 0004 1936 8649) 
Pages
271-274
Publication year
2022
Publication date
Oct 2022
Publisher
Springer Nature B.V.
ISSN
13646745
e-ISSN
13646753
Source type
Scholarly Journal
Language of publication
English
DOI
https://doi.org/10.1007/s10048-022-00697-2
ProQuest document ID
2736067821
Copyright
© The Author(s), under exclusive licence to Springer-Verlag GmbH Germany, part of Springer Nature 2022.