X-linked mental retardation and autism are associated with a mutation in the NLGN4 gene, a member of the neuroligin family.
Am J Hum Genet
; 74(3): 552-7, 2004 Mar.
Article
em En
| MEDLINE
| ID: mdl-14963808
ABSTRACT
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.
Texto completo:
1
Base de dados:
MEDLINE
Assunto principal:
Transtorno Autístico
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Proteínas de Transporte
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Deficiência Intelectual Ligada ao Cromossomo X
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Proteínas de Membrana
Tipo de estudo:
Risk_factors_studies
Limite:
Adolescent
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Adult
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Child
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Child, preschool
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Female
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Humans
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Male
Idioma:
En
Revista:
Am J Hum Genet
Ano de publicação:
2004
Tipo de documento:
Article
País de afiliação:
França