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Related Concept Videos

Point and Frameshift Mutations01:30

Point and Frameshift Mutations

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Point mutations are genetic alterations involving the change of a single nucleotide base pair in DNA. Depending on how the alteration affects protein synthesis, they can lead to various consequences.Point mutations fall into the following types:Silent mutations occur when a nucleotide change does not alter the amino acid sequence due to the redundancy of the genetic code. For instance, changing ACC to ACA still encodes threonine, leaving the protein function unaffected. This occurs because...
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Alternative RNA Splicing02:18

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Alternative RNA splicing is the regulated splicing of exons and introns to produce different mature mRNAs from a single pre-mRNA. Unlike in constitutive splicing where a single gene produces a single type of mRNA, alternative splicing allows an organism to produce multiple proteins from a single gene and plays an important role in protein diversity.
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The evolution of new genes is critical for speciation. Exon recombination, also known as exon shuffling or domain shuffling, is an important means of new gene formation. It is observed across vertebrates, invertebrates, and in some plants such as potatoes and sunflowers. During exon recombination, exons from the same or different genes recombine and produce new exon-intron combinations, which might evolve into new genes. 
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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.
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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.
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Translation is the process of synthesizing proteins from the genetic information carried by messenger RNA (mRNA). Following transcription, it constitutes the final step in the expression of genes. This process is carried out by ribosomes, complexes of protein and specialized RNA molecules. Ribosomes, transfer RNA (tRNA), and other proteins produce a chain of amino acids—the polypeptide—as the end product of translation.
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Updated: Oct 14, 2025

A Strategy to Identify de Novo Mutations in Common Disorders such as Autism and Schizophrenia
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A recurrent SHANK3 frameshift variant in Autism Spectrum Disorder.

Livia O Loureiro1, Jennifer L Howe1, Miriam S Reuter2

  • 1Genetics and Genome Biology and The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, ON, Canada.

NPJ Genomic Medicine
|November 5, 2021
PubMed
Summary
This summary is machine-generated.

A specific SHANK3 gene mutation, p.Ala1227Glyfs*69, is linked to Autism Spectrum Disorder (ASD). This recurrent mutation, found in 0.08% of ASD cases, shows variable symptom expression, impacting genetic counseling and early intervention strategies.

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Area of Science:

  • Genetics
  • Neurodevelopmental Disorders
  • Molecular Biology

Background:

  • Autism Spectrum Disorder (ASD) is a complex neurodevelopmental condition with a significant genetic component.
  • Over 100 copy number variants and numerous genes have been implicated in ASD etiology.
  • Establishing precise genotype-phenotype correlations is crucial for understanding ASD and developing targeted interventions.

Purpose of the Study:

  • To identify recurrent, predicted damaging sequence-level variants in single genes associated with ASD.
  • To investigate the genotype-phenotype correlations of a specific SHANK3 gene mutation in individuals with ASD.
  • To determine the frequency and inheritance patterns of the identified SHANK3 variant in ASD cohorts.

Main Methods:

  • Genome sequence data analysis and literature review to identify recurrent variants.
  • Focus on variants affecting SHANK3, a known ASD-associated gene.
  • Phenotypic evaluation of individuals carrying the identified SHANK3 variant (p.Ala1227Glyfs*69).

Main Results:

  • Identified 18 individuals from 16 families with a heterozygous guanine duplication (c.3679dup; p.Ala1227Glyfs*69) in SHANK3.
  • The p.Ala1227Glyfs*69 frameshift variant was found in 0.08% of ASD-affected individuals.
  • Most mutations were de novo, but somatic mosaicism was observed in five individuals across three families.
  • All 17 individuals formally tested for ASD carried the diagnosis, exhibiting variable expression of core ASD features.

Conclusions:

  • The recurrent SHANK3 p.Ala1227Glyfs*69 frameshift variant is a significant, albeit rare, contributor to ASD.
  • Variable phenotypic expression of this variant underscores the complexity of ASD.
  • Understanding these recurrent mutational mechanisms is vital for accurate genetic counseling and timely early intervention in ASD.