DA BIOLOGICAL PSYCHIATRY

POL.it Psychiatry on line ITALIA ‘s feed: Biological Psychiatry

A brief summary of the articles appearing in this issue of Biological Psychiatry
Abnormalities in synapse formation have been described in post-mortem brain tissue from individuals with autism. Daoud et al. (pages 906–910) provide new evidence that a gene that codes for a protein that plays an important role in synapse formation, NLGN4X, is involved in the genetics of autis…

Autism and Nonsyndromic Mental Retardation Associated with a De Novo Mutation in the NLGN4X Gene Promoter Causing an Increased Expression Level
Background: Pathogenic mutations in the X-linked Neuroligin 4 gene (NLGN4X) in autism spectrum disorders (ASDs) and/or mental retardation (MR) are rare. However, nothing is known regarding a possible altered expression level of NLGN4X that would be caused by mutations in regulatory sequences. We …

Autism-Associated Haplotype Affects the Regulation of the Homeobox Gene, ENGRAILED 2
Background: Association analysis identified the homeobox transcription factor, ENGRAILED 2 (EN2), as a possible autism spectrum disorder (ASD) susceptibility gene (ASD [MIM 608636]; EN2 [MIM 131310]). The common alleles (underlined) of two intronic single nucleotide polymorphisms (SNPs), rs186197…

Autism: The Ups and Downs of Neuroligin
The etiology of autism spectrum disorders (ASD), like many other neurodevelopmental disorders, has a significant contribution from genetic sources. Among the first genetic causes of ASD identified were a number of rare chromosomal disorders (). However, these conditions were not really considered…