Disease relevance of NLGN4X

• 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 [1].

Psychiatry related information on NLGN4X

• 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 [1].

High impact information on NLGN4X

• Mutations of the X-linked genes encoding neuroligins NLGN3 and NLGN4 are associated with autism [2].
• X-linked mental retardation and autism are associated with a mutation in the NLGN4 gene, a member of the neuroligin family [1].
• In particular, recent studies in families with autism spectrum disorder have identified uncommon occurrences of a novel genetic syndrome caused by disruptions of the NLGN4 gene on chromosome Xp22 [3].
• Deletions of VCX-A and NLGN4: a variable phenotype including normal intellect [4].
• Monoallelic expression of NLGN4 was seen in this subject and in 11 of 14 informative autistic and non-autistic females using a single nucleotide polymorphism found at 3' UTR [5].

Biological context of NLGN4X

• 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 [6].

Other interactions of NLGN4X

• VCX-A deficiency has been shown previously to be associated with mental retardation and NLGN4 mutations lead to mental retardation in conjunction with autism [7].

References