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Mutations

Mutations

Mutations

Mutations

Mutations are changes in the sequence of DNA. These changes can occur spontaneously or they can be induced by exposure to environmental factors. Mutations can be characterized in a number of different ways: whether and how they alter the amino acid sequence of the protein, whether they occur over a small or large area of DNA, and whether they occur in somatic cells or germline cells.
Chromosomal Alterations Are Large-Scale Mutations
While point mutations are changes in a single nucleotide in...

Viral Mutations

Viral Mutations

A mutation is a change in the sequence of bases of DNA or RNA in a genome. Some mutations occur during replication of the genome due to errors made by the polymerase enzymes that replicate DNA or RNA. Unlike DNA polymerase, RNA polymerase is prone to errors because it is not capable of “proofreading” its work. Viruses with RNA-based genomes, like HIV, therefore accrue mutations faster than viruses with DNA-based genomes. Because mutation and recombination provide the raw material...

Mutation, Gene Flow, and Genetic Drift

Mutation, Gene Flow, and Genetic Drift

In a population that is not at Hardy-Weinberg equilibrium, the frequency of alleles changes over time. Therefore, any deviations from the five conditions of Hardy-Weinberg equilibrium can alter the genetic variation of a given population. Conditions that change the genetic variability of a population include mutations, natural selection, non-random mating, gene flow, and genetic drift (small population size).

Point and Frameshift Mutations

Point and Frameshift Mutations

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...

Mutations in Microorganisms

Mutations in Microorganisms

Mutations are heritable changes in an organism’s genome involving alterations in the base sequence of DNA or RNA. These changes can influence cellular processes and phenotypic traits, potentially transforming the unaltered wild type into a mutant form. Such changes, termed forward mutations, are pivotal in shaping the genetic diversity of organisms.RNA viruses exhibit the highest mutation rates due to the absence of robust proofreading mechanisms during genome replication. In contrast,...

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Related Experiment Video

Updated: Feb 11, 2026

Conscious and Non-conscious Representations of Emotional Faces in Asperger's Syndrome

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Published on: July 31, 2016

Novel CASK mutations in cases with syndromic microcephaly.

Francesca Cristofoli¹, Koen Devriendt², Erica E Davis³

¹Laboratory for Cytogenetics and Genome Research, Center for Human Genetics, KU Leuven, Leuven, Belgium.

|April 26, 2018

Summary

Novel CASK gene mutations cause microcephaly (MC) and intellectual disability. A zebrafish model confirmed these mutations lead to loss-of-function, impacting brain development and recapitulating MC phenotypes.

Keywords:

CASK cerebellar defects loss-of-function microcephaly zebrafish

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Last Updated: Feb 11, 2026

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A Strategy to Identify de Novo Mutations in Common Disorders such as Autism and Schizophrenia

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Generation of Induced Pluripotent Stem Cells from Turner Syndrome 45XO Fetal Cells for Downstream Modelling of Neurological Deficits Associated with the Syndrome

Published on: December 4, 2021

Area of Science:

Genetics
Neuroscience
Developmental Biology

Background:

Mutations in the CASK gene are linked to a range of neurodevelopmental disorders, including X-linked intellectual disability and microcephaly (MC) with pontocerebellar hypoplasia.
Predicting the pathogenicity and phenotypic outcomes of new CASK mutations solely based on genetic data is challenging.

Purpose of the Study:

To investigate the functional consequences of novel CASK mutations identified in individuals with syndromic MC.
To establish and validate a zebrafish model for assessing the impact of CASK variants on brain development.

Main Methods:

Whole exome sequencing was used to identify four novel CASK mutations in patients with syndromic MC.
A transient loss-of-function zebrafish model was created to study the effects of these mutations.
In vivo complementation studies were performed to confirm the functional impact of the mutations.

Main Results:

The zebrafish model successfully recapitulated key neuroanatomical phenotypes associated with MC.
In vivo complementation studies demonstrated that three of the identified point mutations result in a loss-of-function effect.
The study identified four novel CASK mutations associated with syndromic MC.

Conclusions:

Zebrafish serve as an effective and rapid model system for evaluating the functional effects of novel CASK variants on brain development.
The findings provide insights into the pathogenicity of CASK mutations and their role in microcephaly and related disorders.