Back to Search
Start Over
X-linked mental retardation and autism are associated with a mutation in the NLGN4 gene, a member of the neuroligin family
- Source :
- American Journal of Human Genetics, 74, 552-7, American Journal of Human Genetics, 74, 3, pp. 552-7
- Publication Year :
- 2004
-
Abstract
- Contains fulltext : 59057.pdf (Publisher’s version ) (Closed access) 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.
- Subjects :
- Adult
Male
Adolescent
Genetic Linkage
Cell Adhesion Molecules, Neuronal
Synaptogenesis
Neurexin
Neuroligin
Biology
medicine.disease_cause
Report
Pervasive developmental disorder
medicine
Genetics
Neurosensory disorders [UMCN 3.3]
Humans
Heritability of autism
Genetics(clinical)
Autistic Disorder
Child
Genetics (clinical)
Mutation
Membrane Proteins
medicine.disease
Pedigree
Developmental disorder
Child, Preschool
Mental Retardation, X-Linked
Autism
Female
Carrier Proteins
Subjects
Details
- ISSN :
- 00029297
- Database :
- OpenAIRE
- Journal :
- American Journal of Human Genetics, 74, 552-7, American Journal of Human Genetics, 74, 3, pp. 552-7
- Accession number :
- edsair.doi.dedup.....7c5576afc3fb5859eecfa10400056954