X-linked mental retardation and autism are associated with a mutation in the NLGN4 gene, a member of the neuroligin family.
Fulltext:
59057.pdf
Embargo:
until further notice
Size:
254.7Kb
Format:
PDF
Description:
Publisher’s version
Publication year
2004Source
American Journal of Human Genetics, 74, 3, (2004), pp. 552-7ISSN
Publication type
Article / Letter to editor
Display more detailsDisplay less details
Organization
Human Genetics
Journal title
American Journal of Human Genetics
Volume
vol. 74
Issue
iss. 3
Page start
p. 552
Page end
p. 7
Subject
UMCN 3.3: Neurosensory disordersAbstract
A large French family including members affected by nonspecific X-linked mental retardation, with or without autism or pervasive developmental disorder in affected male patients, has been found to have a 2-base-pair deletion in the Neuroligin 4 gene (NLGN4) located at Xp22.33. This mutation leads to a premature stop codon in the middle of the sequence of the normal protein and is thought to suppress the transmembrane domain and sequences important for the dimerization of neuroligins that are required for proper cell-cell interaction through binding to beta-neurexins. As the neuroligins are mostly enriched at excitatory synapses, these results suggest that a defect in synaptogenesis may lead to deficits in cognitive development and communication processes. The fact that the deletion was present in both autistic and nonautistic mentally retarded males suggests that the NLGN4 gene is not only involved in autism, as previously described, but also in mental retardation, indicating that some types of autistic disorder and mental retardation may have common genetic origins.
This item appears in the following Collection(s)
- Academic publications [238441]
- Electronic publications [122537]
- Faculty of Medical Sciences [90373]
Upload full text
Use your RU credentials (u/z-number and password) to log in with SURFconext to upload a file for processing by the repository team.