Clinical findings and a DNA methylation signature in kindreds with alterations in ZNF711.
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:
04 2022
04 2022
Historique:
received:
03
08
2021
accepted:
22
11
2021
revised:
04
11
2021
pubmed:
8
1
2022
medline:
12
4
2022
entrez:
7
1
2022
Statut:
ppublish
Résumé
ZNF711 is one of eleven zinc-finger genes on the X chromosome that have been associated with X-linked intellectual disability. This association is confirmed by the clinical findings in 20 new cases in addition to 11 cases previously reported. No consistent growth aberrations, craniofacial dysmorphology, malformations or neurologic findings are associated with alterations in ZNF711. The intellectual disability is typically mild and coexisting autism occurs in half of the cases. Carrier females show no manifestations. A ZNF711-specific methylation signature has been identified which can assist in identifying new cases and in confirming the pathogenicity of variants in the gene.
Identifiants
pubmed: 34992252
doi: 10.1038/s41431-021-01018-1
pii: 10.1038/s41431-021-01018-1
pmc: PMC8990020
doi:
Substances chimiques
DNA-Binding Proteins
0
ZNF711 protein, human
0
Types de publication
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
420-427Subventions
Organisme : Wellcome Trust
Pays : United Kingdom
Organisme : NICHD NIH HHS
ID : R01 HD026202
Pays : United States
Commentaires et corrections
Type : ErratumIn
Informations de copyright
© 2021. The Author(s), under exclusive licence to European Society of Human Genetics.
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