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Related Concept Videos

Autism Spectrum Disorder01:19

Autism Spectrum Disorder

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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.
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Comparing Copy Number Variations and SNPs02:26

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Sequencing of the human genome has opened up several best-kept secrets of the genome. Scientists have identified thousands of genome variations that exist within a population. These variations can be a single nucleotide or a larger chromosomal variation.
Copy number variations or CNVs are the structural variations that cover more than 1kb of DNA sequence. The single nucleotide polymorphism (SNP), on the other hand, is a single nucleotide change or a point mutation that is found in more than 1%...
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Genome-wide Association Studies-GWAS01:11

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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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Incomplete Dominance01:43

Incomplete Dominance

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Gregor Mendel's work (1822 - 1884) was primarily focused on pea plants. Through his initial experiments, he determined that every gene in a diploid cell has two variants called alleles inherited from each parent. He suggested that amongst these two alleles, one allele is dominant in character and the other recessive. The combination of alleles determines the phenotype of a gene in an organism.
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Pedigree Analysis01:35

Pedigree Analysis

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Overview
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Single Nucleotide Polymorphisms-SNPs01:05

Single Nucleotide Polymorphisms-SNPs

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A single nucleotide polymorphism or SNP is a single nucleotide variation at a specific genomic position in a large population. It is the most prevalent type of sequence variation found in the human genome. Point mutations that occur in more than 1% of the population qualify as SNPs. These are present once every 1000 nucleotides on an average in the human genome. Replacement of a purine with another purine (A/G) or a pyrimidine with another pyrimidine (C/T) is known as a transition. In contrast,...
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Updated: Jun 16, 2025

A Strategy to Identify de Novo Mutations in Common Disorders such as Autism and Schizophrenia
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Decoding SCN2A Variants: Bridging Genetics and Phenotypes in Autism Spectrum Disorder.

Nicholas DiStefano1, Jaimee N Cooper1,2, David H Elisha1,3

  • 1Hearing Research and Communications Disorders Laboratory, Department of Otolaryngology, University of Miami Miller School of Medicine, 1600 NW 10th Avenue, Miami, FL 33136, USA.

Journal of Clinical Medicine
|June 13, 2025
PubMed
Summary
This summary is machine-generated.

Mutations in the SCN2A gene are linked to autism spectrum disorder (ASD) phenotypes, causing varied neurological symptoms. This research emphasizes SCN2A

Keywords:
Nav1.2 sodium channelSCN2Aautism spectrum disordergenetic counselinggenotype–phenotype correlationmosaicismneurodevelopmental disorderstargeted therapy

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Area of Science:

  • Neuroscience
  • Genetics

Background:

  • Autism spectrum disorder (ASD) is a complex neurodevelopmental condition with increasing prevalence.
  • Genetic factors, including SCN2A gene mutations, play a significant role in ASD etiology.
  • SCN2A encodes the Nav1.2 sodium channel, crucial for neurological function.

Purpose of the Study:

  • To systematically review the relationship between SCN2A mutations and ASD phenotypes.
  • To characterize mutation types, clinical features, and phenotypic variability in individuals with ASD and SCN2A mutations.

Main Methods:

  • Systematic analysis of studies reporting SCN2A mutations in individuals diagnosed with ASD.
  • Focus on mutation types, associated clinical features, and phenotypic variability.

Main Results:

  • Predominantly de novo missense SCN2A mutations were identified.
  • Associated challenges include seizures, intellectual disability, movement disorders, and repetitive behaviors.
  • Significant phenotypic variability and potential gender differences were observed, with specific mutations and mosaicism contributing to heterogeneity.

Conclusions:

  • SCN2A mutations are clinically significant in ASD, impacting genetic counseling and targeted therapy development.
  • Understanding SCN2A genotype-phenotype correlations advances personalized medicine for ASD.
  • Precision therapies for SCN2A-related ASD can be developed based on diverse genetic findings.