Dissection of contiguous gene effects for deletions around ERF on chromosome 19.
ERF
CNV
craniosynostosis
haploinsufficiency
intellectual disability
mosaicism
Journal
Human mutation
ISSN: 1098-1004
Titre abrégé: Hum Mutat
Pays: United States
ID NLM: 9215429
Informations de publication
Date de publication:
07 2021
07 2021
Historique:
revised:
07
04
2021
received:
16
02
2021
accepted:
18
04
2021
pubmed:
17
5
2021
medline:
1
4
2022
entrez:
16
5
2021
Statut:
ppublish
Résumé
Heterozygous intragenic loss-of-function mutations of ERF, encoding an ETS transcription factor, were previously reported to cause a novel craniosynostosis syndrome, suggesting that ERF is haploinsufficient. We describe six families harboring heterozygous deletions including, or near to, ERF, of which four were characterized by whole-genome sequencing and two by chromosomal microarray. Based on the severity of associated intellectual disability (ID), we identify three categories of ERF-associated deletions. The smallest (32 kb) and only inherited deletion included two additional centromeric genes and was not associated with ID. Three larger deletions (264-314 kb) that included at least five further centromeric genes were associated with moderate ID, suggesting that deletion of one or more of these five genes causes ID. The individual with the most severe ID had a more telomerically extending deletion, including CIC, a known ID gene. Children found to harbor ERF deletions should be referred for craniofacial assessment, to exclude occult raised intracranial pressure.
Substances chimiques
ERF protein, human
0
Repressor Proteins
0
Types de publication
Journal Article
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Pagination
811-817Subventions
Organisme : Medical Research Council
ID : MC UU 12025
Pays : United Kingdom
Organisme : Department of Health
Pays : United Kingdom
Informations de copyright
© 2021 The Authors. Human Mutation published by Wiley Periodicals LLC.
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