A Cockayne-like phenotype resulting from a de novo variant in MORC2: expanding the phenotype of MORC2-related disorders.
Cockayne syndrome
Exome sequencing
MORC2
Neurodevelopmental disorder
Journal
Neurogenetics
ISSN: 1364-6753
Titre abrégé: Neurogenetics
Pays: United States
ID NLM: 9709714
Informations de publication
Date de publication:
10 2022
10 2022
Historique:
received:
09
05
2022
accepted:
11
07
2022
pubmed:
4
8
2022
medline:
18
11
2022
entrez:
3
8
2022
Statut:
ppublish
Résumé
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.
Identifiants
pubmed: 35920923
doi: 10.1007/s10048-022-00697-2
pii: 10.1007/s10048-022-00697-2
doi:
Substances chimiques
MORC2 protein, human
0
Transcription Factors
0
Types de publication
Journal Article
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Pagination
271-274Subventions
Organisme : CIHR
ID : 377869
Pays : Canada
Organisme : CIHR
ID : 426534
Pays : Canada
Informations de copyright
© 2022. The Author(s), under exclusive licence to Springer-Verlag GmbH Germany, part of Springer Nature.
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