Identification of a DNA methylation signature for Renpenning syndrome (RENS1), a spliceopathy.
Journal
European journal of human genetics : EJHG
ISSN: 1476-5438
Titre abrégé: Eur J Hum Genet
Pays: England
ID NLM: 9302235
Informations de publication
Date de publication:
08 2023
08 2023
Historique:
received:
07
02
2022
accepted:
01
02
2023
revised:
24
01
2023
pmc-release:
01
08
2024
medline:
7
8
2023
pubmed:
17
2
2023
entrez:
16
2
2023
Statut:
ppublish
Résumé
The challenges and ambiguities in providing an accurate diagnosis for patients with neurodevelopmental disorders have led researchers to apply epigenetics as a technique to validate the diagnosis provided based on the clinical examination and genetic testing results. Genome-wide DNA methylation analysis has recently been adapted for clinical testing of patients with genetic neurodevelopmental disorders. In this paper, preliminary data demonstrating a DNA methylation signature for Renpenning syndrome (RENS1 - OMIM 309500), which is an X-linked recessive neurodevelopmental disorder caused by variants in polyglutamine-binding protein 1 (PQBP1) is reported. The identified episignature was then utilized to construct a highly sensitive and specific binary classification model. Besides providing evidence for the existence of a DNA methylation episignature for Renpenning syndrome, this study increases the knowledge of the molecular mechanisms related to the disease. Moreover, the availability of more subjects in future may facilitate the establishment of an episignature that can be utilized for diagnosis in a clinical setting and for reclassification of variants of unknown clinical significance.
Identifiants
pubmed: 36797465
doi: 10.1038/s41431-023-01313-z
pii: 10.1038/s41431-023-01313-z
pmc: PMC10400603
doi:
Substances chimiques
PQBP1 protein, human
0
DNA-Binding Proteins
0
Types de publication
Journal Article
Research Support, Non-U.S. Gov't
Research Support, N.I.H., Extramural
Langues
eng
Sous-ensembles de citation
IM
Pagination
879-886Subventions
Organisme : NICHD NIH HHS
ID : R01 HD026202
Pays : United States
Informations de copyright
© 2023. The Author(s), under exclusive licence to European Society of Human Genetics.
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