Distinct Neurocognitive Profiles and Clinical Phenotypes Associated with Copy Number Variation at the 22q11.2 Locus.

22q11.2 deletion syndrome 22q11.2 duplication cognition copy number variation intellectual ability memory psychopathology psychosis social function velocardiofacial syndrome

Journal

medRxiv : the preprint server for health sciences
Titre abrégé: medRxiv
Pays: United States
ID NLM: 101767986

Informations de publication

Date de publication:
16 May 2023
Historique:
pubmed: 9 6 2023
medline: 9 6 2023
entrez: 9 6 2023
Statut: epublish

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

Identifiants

DOI: 10.1101/2023.05.12.23289905 PMID: 37292882 PMC: PMC10246073
pubmed: 37292882
doi: 10.1101/2023.05.12.23289905
pmc: PMC10246073
pii:
doi:

Types de publication

Preprint

Langues

eng

Subventions

Organisme : NIMH NIH HHS
ID : R01 MH085953
Pays : United States

Commentaires et corrections

Type : UpdateIn

Auteurs

Kathleen P O'Hora (KP)

Department of Psychiatry and Biobehavioral Sciences, Semel Institute for Neuroscience and Human Behavior, University of California, Los Angeles, CA, USA.
Neuroscience Interdepartmental Program, University of California, Los Angeles, CA, USA.

Leila Kushan-Wells (L)

Department of Psychiatry and Biobehavioral Sciences, Semel Institute for Neuroscience and Human Behavior, University of California, Los Angeles, CA, USA.

Gil D Hoftman (GD)

Department of Psychiatry and Biobehavioral Sciences, Semel Institute for Neuroscience and Human Behavior, University of California, Los Angeles, CA, USA.

Maria Jalbrzikowski (M)

Department of Psychiatry and Behavioral Sciences, Boston Children's Hospital, Boston, MA, USA.

Raquel C Gur (RC)

Department of Psychiatry, University of Pennsylvania and the Penn-CHOP Lifespan and Brain Institute, Philadelphia, PA, USA.

Ruben Gur (R)

Department of Psychiatry, University of Pennsylvania and the Penn-CHOP Lifespan and Brain Institute, Philadelphia, PA, USA.

Carrie E Bearden (CE)

Department of Psychiatry and Biobehavioral Sciences, Semel Institute for Neuroscience and Human Behavior, University of California, Los Angeles, CA, USA.
Department of Psychology, University of California, Los Angeles, CA, USA.

Classifications MeSH