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Related Concept Videos

Autism Spectrum Disorder01:19

Autism Spectrum Disorder

Autism spectrum disorder (ASD) is a neurodevelopmental condition marked by persistent deficits in social communication and interaction alongside restrictive and repetitive behaviors or interests. ASD is sometimes accompanied by intellectual impairment.
These core symptoms manifest differently among individuals, ranging from mild to severe. The disorder's complexity extends beyond its clinical presentation, encompassing a diverse range of biological, cognitive, and sociocultural influences.
Pleiotropy01:33

Pleiotropy

Pleiotropy is the phenomenon in which a single gene impacts multiple, seemingly unrelated phenotypic traits. For example, defects in the SOX10 gene cause Waardenburg Syndrome Type 4, or WS4, which can cause defects in pigmentation, hearing impairments, and an absence of intestinal contractions necessary for elimination. This diversity of phenotypes results from the expression pattern of SOX10 in early embryonic and fetal development. SOX10 is found in neural crest cells that form melanocytes,...
Behavioral Genetics and Its Designs01:23

Behavioral Genetics and Its Designs

Behavior genetics explores how genetic inheritance influences human behavior. It focuses on how genes, passed from parents to offspring, contribute to the development of behavioral traits and tendencies. This branch of genetics seeks to understand the complex interplay between inherited genetic factors and environmental influences in shaping our behaviors.
The primary methodologies used in behavior genetics include family studies, twin studies, and adoption studies, each providing unique...
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Pedigree Analysis

Overview
Human Genetics01:28

Human Genetics

Human genetics provides a profound framework for understanding the interplay between genetic predispositions and human psychology. At the heart of this discipline lies the study of how genes influence physical traits, behaviors, and susceptibility to diseases. Each person carries a unique genetic code that subtly or significantly shapes their psychological and behavioral landscape.
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Genome-wide Association Studies-GWAS01:11

Genome-wide Association Studies-GWAS

Genome-wide association studies or GWAS are used to identify whether common SNPs are associated with certain diseases. Suppose specific SNPs are more frequently observed in individuals with a particular disease than those without the disease. In that case, those SNPs are said to be associated with the disease. Chi-square analysis is performed to check the probability of the allele likely to be associated with the disease.
GWAS does not require the identification of the target gene involved in...

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Paradigms for Behavioral Assessment in Drosophila Model of Autism Spectrum Disorder
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Published on: September 6, 2024

In silico Genotype-Phenotype Correlation Analysis of Inherited Variations in Autism Spectrum Disorder Families

Meghana Kommerahalli RameshRaju1, Snijesh Valiya Parambath2, Durbagula Srividhya3

  • 1Department of Studies in Genetics and Genomics, University of Mysore, Mysore, 570005, Karnataka, India.

Journal of Molecular Neuroscience : MN
|May 25, 2026
PubMed
Summary

Inherited genetic variations, not just de novo mutations, contribute to Autism Spectrum Disorder (ASD). Subtle, accumulated genetic traits from parents can manifest as ASD in offspring, highlighting an overlooked area in autism research.

Keywords:
De novo and inherited variationsAutismDifferentially expressed genesProtein interaction networkSensory and epilepsy genes

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Area of Science:

  • Genetics
  • Neurodevelopmental Disorders

Background:

  • Autism Spectrum Disorder (ASD) is a neurodevelopmental condition with a significant genetic component.
  • Current research often focuses on de novo mutations, leaving inherited rare variants understudied.
  • This study investigates the hypothesis that accumulated, subtle inherited genetic traits contribute to ASD manifestation.

Purpose of the Study:

  • To identify and analyze inherited genetic variations in simplex ASD families.
  • To explore the functional roles of these inherited variants in ASD-related behaviors and comorbidities.
  • To uncover potential new candidate genes for ASD through inherited variation analysis.

Main Methods:

  • Whole Exome Sequencing (WES) data from 23 simplex ASD families.
  • Bioinformatic processing using BWA, GATK, and VarScan for variant calling.
  • Functional annotation and weighted scoring of inherited variants based on evolutionary intolerance and neuronal function.

Main Results:

  • Identified 751 'weighted-genes' with deleterious inherited variations.
  • Found significant enrichment of genes linked to core ASD behaviors (social interaction, RRBs), associated behaviors (hyperactivity, mood), and neuronal functions.
  • Highlighted connections between genes for RRBs and sensory functions, and genes for social interaction deficits and seizures.
  • Protein-protein interaction analysis suggested BUB1, HMGA2, HDAC2, KALRN, SORL1, IGF2, FASN, WFS1 as potential new ASD candidates.

Conclusions:

  • Inherited variations in genes regulating sensory function and neurodevelopment contribute to ASD, specifically to restrictive repetitive behaviors (RRBs).
  • A multigenic, additive genetic load from parents to offspring is implicated in ASD etiology.
  • This research underscores the importance of studying inherited genetic factors in ASD, opening a new avenue for genetic research.