Distinct neurocognitive profiles and clinical phenotypes associated with copy number variation at the 22q11.2 locus.
22q.11.2 deletion syndrome
22q11.2 duplication
Velocardiofacial syndrome
cognition
copy number variation
intellectual ability
memory
psychopathology
psychosis
social function
Journal
Autism research : official journal of the International Society for Autism Research
ISSN: 1939-3806
Titre abrégé: Autism Res
Pays: United States
ID NLM: 101461858
Informations de publication
Date de publication:
23 Nov 2023
23 Nov 2023
Historique:
received:
13
03
2023
accepted:
23
10
2023
medline:
24
11
2023
pubmed:
24
11
2023
entrez:
24
11
2023
Statut:
aheadofprint
Résumé
Rare genetic variants that confer large effects on neurodevelopment and behavioral phenotypes can reveal novel gene-brain-behavior relationships relevant to autism. Copy number variation at the 22q11.2 locus offer one compelling example, as both the 22q11.2 deletion (22qDel) and duplication (22qDup) confer increased likelihood of autism spectrum disorders (ASD) and cognitive deficits, but only 22qDel confers increased psychosis risk. Here, we used the Penn Computerized Neurocognitive Battery (Penn-CNB) to characterized neurocognitive profiles of 126 individuals: 55 22qDel carriers (M
Types de publication
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Subventions
Organisme : NIMH NIH HHS
ID : R01MH085953
Pays : United States
Organisme : NIMH NIH HHS
ID : R01 MH129858
Pays : United States
Organisme : NIMH NIH HHS
ID : T32NS048004
Pays : United States
Organisme : Autism Speaks
ID : #13530
Pays : United States
Organisme : NIMH NIH HHS
ID : U01MH101779
Pays : United States
Organisme : NIMH NIH HHS
ID : R01 MH107250
Pays : United States
Commentaires et corrections
Type : UpdateOf
Informations de copyright
© 2023 The Authors. Autism Research published by International Society for Autism Research and Wiley Periodicals LLC.
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