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Mutations of the X-linked genes encoding neuroligins NLGN3 and NLGN4 are associated with autism

Authors :
Catalina Betancur
Marion Leboyer
Stéphane Jamain
Hélène Quach
Catherine Colineaux
Thomas Bourgeron
Bruno Giros
Henrik Soderstrom
Maria Råstam
I. Carina Gillberg
Christopher Gillberg
Betancur, Catalina
Génomique fonctionnelle et développement
Institut Pasteur [Paris] (IP)-Institut National de la Santé et de la Recherche Médicale (INSERM)
Neurobiologie et Psychiatrie
Université Pierre et Marie Curie - Paris 6 (UPMC)-Institut National de la Santé et de la Recherche Médicale (INSERM)
Department of Child and Adolescent Psychiatry
University of Gothenburg (GU)
Service de psychopathologie de l'enfant et de l'adolescent
Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Robert Debré-Université Paris Diderot - Paris 7 (UPD7)
Département de Psychiatrie
Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Albert Chenevier
Department of Psychiatry
Saint George's Hospital Medical School
This work was funded by the French Research Ministry (Actions Concertées Incitatives), the INSERM (Institut National de la Santé et la Recherche Médicale), France Télécom, and the Swedish Medical Research Council.
Paris Autism Research International Sibpair (PARIS) study
Institut Pasteur [Paris]-Institut National de la Santé et de la Recherche Médicale (INSERM)
Source :
Nature Genetics, Nature Genetics, 2003, 34 (1), pp.27-9. ⟨10.1038/ng1136⟩, Nature Genetics, Nature Publishing Group, 2003, 34 (1), pp.27-9. ⟨10.1038/ng1136⟩
Publication Year :
2003
Publisher :
HAL CCSD, 2003.

Abstract

Many studies have supported a genetic etiology for autism. Here we report mutations in two X-linked genes encoding neuroligins NLGN3 and NLGN4 in siblings with autism-spectrum disorders. These mutations affect cell-adhesion molecules localized at the synapse and suggest that a defect of synaptogenesis may predispose to autism.

Subjects

Subjects :
Male
CNTNAP2
Genetic Linkage
Neurexin
Neuroligin
[SDV.GEN] Life Sciences [q-bio]/Genetics
MESH: Amino Acid Sequence
MESH: Base Sequence
medicine.disease_cause
0302 clinical medicine
Heritability of autism
Genetics
0303 health sciences
Mutation
Brain
Pedigree
Female
MESH: Membrane Proteins
DNA, Complementary
MESH: Mutation
Cell Adhesion Molecules, Neuronal
Molecular Sequence Data
MESH: Autistic Disorder
Epigenetics of autism
LRRTM1
Nerve Tissue Proteins
MESH: Carrier Proteins
Biology
behavioral disciplines and activities
Article
MESH: Chromosomes, Human, X
03 medical and health sciences
MESH: Brain
MESH: Gene Expression Profiling
mental disorders
medicine
Humans
Amino Acid Sequence
RNA, Messenger
Autistic Disorder
030304 developmental biology
Chromosomes, Human, X
[SDV.GEN]Life Sciences [q-bio]/Genetics
MESH: Molecular Sequence Data
MESH: Humans
Base Sequence
Sequence Homology, Amino Acid
Gene Expression Profiling
Membrane Proteins
MESH: DNA, Complementary
medicine.disease
MESH: Male
MESH: Nerve Tis
Autism
Carrier Proteins
MESH: Linkage (Genetics)
MESH: Female
030217 neurology & neurosurgery

Details

Language :
English
ISSN :
10614036 and 15461718
Database :
OpenAIRE
Journal :
Nature Genetics, Nature Genetics, 2003, 34 (1), pp.27-9. ⟨10.1038/ng1136⟩, Nature Genetics, Nature Publishing Group, 2003, 34 (1), pp.27-9. ⟨10.1038/ng1136⟩
Accession number :
edsair.doi.dedup.....256d679e2da3bb567a18454b2adf0878

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Authors Abstract Subjects Details