Involvement of the 14-3-3 Gene Family in Autism Spectrum Disorder and Schizophrenia: Genetics, Transcriptomics and Functional Analyses.

The 14-3-3 protein family are molecular chaperones involved in several biological functions and neurological diseases. We previously pinpointed (encoding 14-3-3ζ) as a candidate gene for autism spectrum disorder (ASD) through a whole-exome sequencing study, which identified a frameshift variant within the gene (c.659-660insT, p.

Increased subcortical neural responses to repeating auditory stimulation in children with autism spectrum disorder.

Recent research has highlighted atypical reactivity to sensory stimulation as a core symptom in children with autism spectrum disorder (ASD). However, little is known about the dysfunctional neurological mechanisms underlying these aberrant sensitivities. Here we tested the hypothesis that the ability to filter out auditory repeated information is deficient in children with ASD already from subcortical levels, yielding to auditory sensitivities.

Paternally inherited cis-regulatory structural variants are associated with autism.

The genetic basis of autism spectrum disorder (ASD) is known to consist of contributions from de novo mutations in variant-intolerant genes. We hypothesize that rare inherited structural variants in cis-regulatory elements (CRE-SVs) of these genes also contribute to ASD. We investigated this by assessing the evidence for natural selection and transmission distortion of CRE-SVs in whole genomes of 9274 subjects from 2600 families affected by ASD.

Common and rare variants of microRNA genes in autism spectrum disorders.

Objectives: MicroRNAs (miRNAs) are post-transcriptional regulators that have been shown to be involved in disease susceptibility. Here we explore the possible contribution of common and rare variants in miRNA genes in autism spectrum disorders (ASD).

Methods: A total of 350 tag SNPs from 163 miRNA genes were genotyped in 636 ASD cases and 673 controls.

Contribution of common and rare variants of the PTCHD1 gene to autism spectrum disorders and intellectual disability.

Recent findings revealed rare copy number variants and missense changes in the X-linked gene PTCHD1 in autism spectrum disorder (ASD) and intellectual disability (ID). Here, we aim to explore the contribution of common PTCHD1 variants in ASD and gain additional evidence for the role of rare variants of this gene in ASD and ID. A two-stage case-control association study investigated 28 tag single nucleotide polymorphisms (SNPs) in 994 ASD cases and 1035 controls from four European populations.

Asperger syndrome: can the disorder be diagnosed in the adult age?

Introduction: Asperger Syndrome (AS) is characterized by a qualitative disorder of social interaction, a pattern of restrictive, repetitive and stereotyped behavior, interests and activities, with normal intellectual capacity and normal language skills in the areas of grammar and vocabulary. Since its inclusion in international taxonomies, there has been much controversy regarding its nosological validity.

Clinical Case: A patient with a diagnosis of AS in adulthood is described.