A PUS7 gene pathogenic variant causing self-injurious behavior, sleep disturbances, and developmental delay: A case report.
PUS7
autistic-like behavior
behavioral disturbances
developmental delay
microcephaly
Journal
American journal of medical genetics. Part A
ISSN: 1552-4833
Titre abrégé: Am J Med Genet A
Pays: United States
ID NLM: 101235741
Informations de publication
Date de publication:
07 2023
07 2023
Historique:
revised:
27
03
2023
received:
17
02
2023
accepted:
04
04
2023
medline:
8
6
2023
pubmed:
18
4
2023
entrez:
17
4
2023
Statut:
ppublish
Résumé
PUS7 gene pathogenic variants cause a deficiency in an RNA-independent pseudouridine synthase, which results in a neurodevelopmental phenotype characterized by various degrees of psychomotor delay, acquired microcephaly, aggressive behavior, and intellectual disability. Since 2018, PUS7 deficiency has been described in 15 patients with different pathogenic variants but similar clinical phenotypes. We describe the case of a male infant with a homozygous truncating pathogenic variant in the PUS7 gene (c.329_332delCTGA; p.Thr110Argfs*4) who, in addition to the previously mentioned features, displays self-injurious behavior, sleep disturbances and motor stereotypies.
Identifiants
pubmed: 37067188
doi: 10.1002/ajmg.a.63212
doi:
Substances chimiques
PUS7 protein, human
EC 5.4.-
Types de publication
Case Reports
Langues
eng
Sous-ensembles de citation
IM
Pagination
1953-1958Informations de copyright
© 2023 Wiley Periodicals LLC.
Références
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