scholarly journals The Molecular Genetics of Autism Spectrum Disorders: Genomic Mechanisms, Neuroimmunopathology, and Clinical Implications

2011 ◽  
Vol 2011 ◽  
pp. 1-16 ◽  
Author(s):  
Daniel J. Guerra
Keyword(s):  
Autism Spectrum Disorders ◽  
Animal Studies ◽  
Autism Spectrum ◽  
Copy Number Variations ◽  
Neural Pathways ◽  
Nucleotide Polymorphisms ◽  
Affective Neuroscience ◽  
Model Animal ◽  
Spectrum Disorders ◽  
Environmental Causes

Autism spectrum disorders (ASDs) have become increasingly common in recent years. The discovery of single-nucleotide polymorphisms and accompanying copy number variations within the genome has increased our understanding of the architecture of the disease. These genetic and genomic alterations coupled with epigenetic phenomena have pointed to a neuroimmunopathological mechanism for ASD. Model animal studies, developmental biology, and affective neuroscience laid a foundation for dissecting the neural pathways impacted by these disease-generating mechanisms. The goal of current autism research is directed toward a systems biological approach to find the most basic genetic and environmental causes to this severe developmental disease. It is hoped that future genomic and neuroimmunological research will be directed toward finding the road toward prevention, treatment, and cure of ASD.

SNAP-25 single nucleotide polymorphisms are associated with hyperactivity in autism spectrum disorders

2011 ◽  
Vol 64 (3) ◽  
pp. 283-288 ◽  
Author(s):  
Franca R. Guerini ◽  
Elisabetta Bolognesi ◽  
Matteo Chiappedi ◽  
Salvatorica Manca ◽  
Alessandro Ghezzo ◽  
...  
Keyword(s):  
Autism Spectrum Disorders ◽  
Single Nucleotide Polymorphisms ◽  
Autism Spectrum ◽  
Nucleotide Polymorphisms ◽  
Single Nucleotide ◽  
Spectrum Disorders

Recurrent copy number variations as risk factors for autism spectrum disorders: analysis of the clinical implications

2016 ◽  
Vol 89 (6) ◽  
pp. 708-718 ◽  
Author(s):  
V. Oikonomakis ◽  
K. Kosma ◽  
A. Mitrakos ◽  
C. Sofocleous ◽  
P. Pervanidou ◽  
...  
Keyword(s):  
Risk Factors ◽  
Autism Spectrum Disorders ◽  
Copy Number ◽  
Autism Spectrum ◽  
Copy Number Variations ◽  
Clinical Implications ◽  
Spectrum Disorders

scholarly journals Identification of Copy Number Variation by Array-CGH in Portuguese Children and Adolescents Diagnosed with Autism Spectrum Disorders

2019 ◽  
Vol 50 (06) ◽  
pp. 367-377
Author(s):  
S. Monteiro ◽  
J. Pinto ◽  
A. Mira Coelho ◽  
M. Leão ◽  
S. Dória
Keyword(s):  
Autism Spectrum Disorders ◽  
Copy Number ◽  
Array Cgh ◽  
Chromosomal Abnormalities ◽  
Daily Practice ◽  
Autism Spectrum ◽  
Copy Number Variations ◽  
Comparative Genomic ◽  
Uncertain Significance ◽  
Spectrum Disorders

Background Autism spectrum disorders (ASD) affect many children with an estimated prevalence of 1%. Array-comparative genomic hybridization (CGH) offers significant sensitivity for the identification of submicroscopic chromosomal abnormalities and it is one of the most used techniques in daily practice. The main objective of this study was to describe the usefulness of array-CGH in the etiologic diagnosis of ASD. Methods Two-hundred fifty-three patients admitted to a neurogenetic outpatient clinic and diagnosed with ASD were selected for array-CGH (4 × 180K microarrays). Public databases were used for classification in accordance with the American College of Medical Genetics Standards and Guidelines. Results About 3.56% (9/253) of copy number variations (CNVs) were classified as pathogenic. When likely pathogenic CNVs were considered, the rate increased to 11.46% (29/253). Some CNVs apparently not correlated to the ASD were also found. Considering a phenotype–genotype correlation, the patients were divided in two groups. One group according to previous literature includes all the CNVs related to ASDs (23 CNVs present in 22 children) and another with those apparently not related to ASD (10 CNVs present in 7 children). In 18 patients, a next-generation sequencing (NGS) panel were performed. From these, one pathogenic and 16 uncertain significance variants were identified. Conclusion The results of our study are in accordance with the literature, highlighting the relevance of array-CGH in the genetic of diagnosis of ASD population, namely when associated with other features. Our study also reinforces the need for complementarity between array-CGH and NGS panels or whole exome sequencing in the etiological diagnosis of ASD.

scholarly journals Predictive impact of rare genomic copy number variations in siblings of individuals with autism spectrum disorders

2019 ◽  
Vol 10 (1) ◽  
Author(s):  
L. D’Abate ◽  
S. Walker ◽  
R. K. C. Yuen ◽  
K. Tammimies ◽  
J. A. Buchanan ◽  
...  
Keyword(s):  
Autism Spectrum Disorders ◽  
Copy Number ◽  
Copy Number Variants ◽  
Autism Spectrum ◽  
Copy Number Variations ◽  
Recurrence Prediction ◽  
Common Genetic Variants ◽  
Spectrum Disorders ◽  
Atypical Development ◽  
Research Consortium

AbstractIdentification of genetic biomarkers associated with autism spectrum disorders (ASDs) could improve recurrence prediction for families with a child with ASD. Here, we describe clinical microarray findings for 253 longitudinally phenotyped ASD families from the Baby Siblings Research Consortium (BSRC), encompassing 288 infant siblings. By age 3, 103 siblings (35.8%) were diagnosed with ASD and 54 (18.8%) were developing atypically. Thirteen siblings have copy number variants (CNVs) involving ASD-relevant genes: 6 with ASD, 5 atypically developing, and 2 typically developing. Within these families, an ASD-related CNV in a sibling has a positive predictive value (PPV) for ASD or atypical development of 0.83; the Simons Simplex Collection of ASD families shows similar PPVs. Polygenic risk analyses suggest that common genetic variants may also contribute to ASD. CNV findings would have been pre-symptomatically predictive of ASD or atypical development in 11 (7%) of the 157 BSRC siblings who were eventually diagnosed clinically.

scholarly journals Copy number variations associated with autism spectrum disorders contribute to a spectrum of neurodevelopmental disorders

2010 ◽  
Vol 12 (11) ◽  
pp. 694-702 ◽  
Author(s):  
Jill A Rosenfeld ◽  
Blake C Ballif ◽  
Beth S Torchia ◽  
Trilochan Sahoo ◽  
J Britt Ravnan ◽  
...  
Keyword(s):  
Autism Spectrum Disorders ◽  
Neurodevelopmental Disorders ◽  
Copy Number ◽  
Autism Spectrum ◽  
Copy Number Variations ◽  
Spectrum Disorders

Impact of DRD2 polymorphisms on prolactin level in risperidone-treated Thai children and adolescent with autism spectrum disorders

2016 ◽  
Vol 33 (S1) ◽  
pp. S93-S93
Author(s):  
C. Sukasem ◽  
Y. Hongkaew
Keyword(s):  
Autism Spectrum Disorders ◽  
Children And Adolescents ◽  
Prolactin Level ◽  
Critical Role ◽  
Autism Spectrum ◽  
Nucleotide Polymorphisms ◽  
Genotype Frequencies ◽  
Adolescents With Autism ◽  
Spectrum Disorders ◽  
The Impact

IntroductionA large number of studies have reported that the prolactin concentration was significantly increased in the Taq1A A1 allele carriers because several reports revealed that individuals with the DRD2 Taq1A A1 allele have a reduced density of brain D2 receptors.ObjectiveThe main aim of this study was to identify the impact of pharmacogenetic markers associated with prolactin concentration in risperidone-treated children and adolescents with autism spectrum disorders.MethodsOne hundred and forty-seven children and adolescents with autism, aged 3 to 19, received risperidone. The clinical data of patients were recorded from medical records. Prolactin levels were measured by chemiluminescence immunoassay. Three CYP2D6 single nucleotide polymorphisms (SNPs), CYP2D6*4 (1846G>A), *10 (100C>T), and *41 (2988G>A), one gene deletion (*5), and DRD2 Taq1A (rs1800497) polymorphism were genotyped by TaqMan real-time PCR.ResultsThe three common allelic frequencies were CYP2D6*10 (55.10%), *1 (32.65%) and *5 (6.12%), respectively. Patients were grouped according to their CYP2D6 genotypes. The DRD2 genotype frequencies were Taq1A A2A2 (38.77%), A1A2 (41.50%), and A1A1 (19.73%), respectively. There were statistically significant differences in prolactin level of patients among the three groups (P = 0.033). The median prolactin level in patients with DRD2 Taq1A A2A2 (17.80 ng/mL) was significantly higher than A1A2 (17.10 ng/mL) and A1A1 (12.70 ng/mL).ConclusionDRD2 Taq1A A2A2 polymorphisms may be a critical role in an influence prolactin elevation during risperidone treatment in ASD.Disclosure of interestThe authors have not supplied their declaration of competing interest.

The landscape of copy number variations in Finnish families with autism spectrum disorders

2015 ◽  
Vol 9 (1) ◽  
pp. 9-16 ◽  
Author(s):  
Chakravarthi Kanduri ◽  
Katri Kantojärvi ◽  
Paula M Salo ◽  
Raija Vanhala ◽  
Gemma Buck ◽  
...  
Keyword(s):  
Autism Spectrum Disorders ◽  
Copy Number ◽  
Autism Spectrum ◽  
Copy Number Variations ◽  
Spectrum Disorders
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