Absence of coding mutations in the X-linked genes neuroligin 3 and neuroligin 4 in individuals with autism from the IMGSAC collection

Neuroligin abnormalities have been recently implicated in the aetiology of autism spectrum disorders (ASD), given the finding of point mutations in the two X‐linked genes NLGN3 and NLGN4X and the important role of neuroligins in synaptogenesis. To enquire on the relevance and frequency of neuroligin...

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Bibliographic Details
Published in:American journal of medical genetics. Part B, Neuropsychiatric genetics Neuropsychiatric genetics, 2006-04, Vol.141B (3), p.220-221
Main Authors: Blasi, Francesca, Bacchelli, Elena, Pesaresi, Giulia, Carone, Simona, Bailey, Anthony J., Maestrini, Elena
Format: Article
Language:English
Subjects:
autism
Autistic Disorder - genetics
Biological and medical sciences
Carrier Proteins - genetics
Cell Adhesion Molecules, Neuronal
Child clinical studies
chromosome X
Chromosomes, Human, X - genetics
Developmental disorders
DNA Mutational Analysis
Exons - genetics
Female
Genetic Linkage
Humans
Infantile autism
International Cooperation
Male
Medical sciences
Membrane Proteins - genetics
Mutation
mutation screening
Mutation, Missense
Nerve Tissue Proteins - genetics
neuroligin
Polymorphism, Single Nucleotide
Psychology. Psychoanalysis. Psychiatry
Psychopathology. Psychiatry
Registries
synaptogenesis
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Summary:Neuroligin abnormalities have been recently implicated in the aetiology of autism spectrum disorders (ASD), given the finding of point mutations in the two X‐linked genes NLGN3 and NLGN4X and the important role of neuroligins in synaptogenesis. To enquire on the relevance and frequency of neuroligin mutations in ASD, we performed a mutation screening of NLGN3 and NLGN4X in a sample of 124 autism probands from the International Molecular Genetic Study of Autism Consortium (IMGSAC). We identified a new non‐synonymous variant in NLGN3 (Thr632Ala), which is likely to be a rare polymorphism. Our data indicate that coding mutations in these genes are very rarely associated to ASD. © 2006 Wiley‐Liss, Inc.
ISSN:1552-4841
1552-485X
DOI:10.1002/ajmg.b.30287