ADGRL1 haploinsufficiency causes a variable spectrum of neurodevelopmental disorders in humans and alters synaptic activity and behavior in a mouse model.
ADGRL1
ADHD
ASD
Adgrl1 knockout mice
attention deficit hyperactivity disorder
autism spectrum disorder
developmental delay
epilepsy
intellectual disability
malfunctional behavior in mice
neuropsychiatric disorders
variable expressivity
Journal
American journal of human genetics
ISSN: 1537-6605
Titre abrégé: Am J Hum Genet
Pays: United States
ID NLM: 0370475
Informations de publication
Date de publication:
04 08 2022
04 08 2022
Historique:
received:
06
04
2022
accepted:
22
06
2022
pubmed:
31
7
2022
medline:
10
8
2022
entrez:
30
7
2022
Statut:
ppublish
Résumé
ADGRL1 (latrophilin 1), a well-characterized adhesion G protein-coupled receptor, has been implicated in synaptic development, maturation, and activity. However, the role of ADGRL1 in human disease has been elusive. Here, we describe ten individuals with variable neurodevelopmental features including developmental delay, intellectual disability, attention deficit hyperactivity and autism spectrum disorders, and epilepsy, all heterozygous for variants in ADGRL1. In vitro, human ADGRL1 variants expressed in neuroblastoma cells showed faulty ligand-induced regulation of intracellular Ca
Identifiants
pubmed: 35907405
pii: S0002-9297(22)00264-6
doi: 10.1016/j.ajhg.2022.06.011
pmc: PMC9388395
pii:
doi:
Substances chimiques
ADGRL1 protein, human
0
Adgrl1 protein, mouse
0
Receptors, G-Protein-Coupled
0
Receptors, Peptide
0
Types de publication
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
1436-1457Subventions
Organisme : Biotechnology and Biological Sciences Research Council
ID : BBD523078
Pays : United Kingdom
Organisme : Wellcome Trust
ID : GR074359MA
Pays : United Kingdom
Organisme : Wellcome Trust
Pays : United Kingdom
Organisme : Wellcome Trust
ID : WT083199MF
Pays : United Kingdom
Organisme : Biotechnology and Biological Sciences Research Council
ID : BBF0083091
Pays : United Kingdom
Informations de copyright
Copyright © 2022 American Society of Human Genetics. Published by Elsevier Inc. All rights reserved.
Déclaration de conflit d'intérêts
Declaration of interests The Department of Molecular and Human Genetics at Baylor College of Medicine receives revenue from clinical genetic testing completed at Baylor Genetics Laboratories. A.C. is an employee of GeneDx, Inc.
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