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Mutations01:39

Mutations

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Overview
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Mutations01:35

Mutations

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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.
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Relationship with Other Adult Family Members and Siblings01:29

Relationship with Other Adult Family Members and Siblings

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Other adult family members and siblings play a crucial role in shaping children’s social and emotional development. While parents or primary caregivers are often the central figures in early attachment and socialization, other adults in a child’s life, such as grandparents, aunts, and uncles, can significantly influence developmental outcomes. These influences depend on each adult’s personality and may help compensate when a primary caregiver is emotionally distant or...
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Viral Mutations00:36

Viral Mutations

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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...
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Mutation, Gene Flow, and Genetic Drift01:09

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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).
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Mutations in Microorganisms01:18

Mutations in Microorganisms

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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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Updated: Jan 22, 2026

A Strategy to Identify de Novo Mutations in Common Disorders such as Autism and Schizophrenia
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Novel ERCC2 mutation in two siblings with trichothiodystrophy.

Emily B Lund1, Sarah L Stein1

  • 1Section of Dermatology, Department of Medicine and Pediatrics, University of Chicago Medicine, Chicago, Illinois.

Pediatric Dermatology
|July 9, 2019
PubMed
Summary

Trichothiodystrophy is a rare genetic disorder causing brittle hair. This study identifies a new ERCC2 gene mutation, confirming a severe phenotype in affected siblings.

Keywords:
ERCC2genodermatoseshair disorderstrichothiodystrophy

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Area of Science:

  • Genetics
  • Molecular Biology
  • Neuroscience

Background:

  • Trichothiodystrophy (TTD) is a group of rare, inherited neuroectodermal disorders.
  • TTD is characterized by brittle, sulfur-deficient hair and multisystem involvement.
  • Genetic mutations, particularly in DNA repair genes, are implicated in TTD.

Observation:

  • Two siblings presented with clinical features of trichothiodystrophy.
  • Genetic analysis revealed a novel compound heterozygous genotype in the ERCC2 gene.
  • The siblings inherited a previously described pathogenic mutation (p.Arg722Trp) from their mother and a novel mutation (c.1480-1G>C) from their father.

Findings:

  • The novel paternal mutation (c.1480-1G>C) in ERCC2 was identified as pathogenic.
  • The previously described maternal mutation (p.Arg722Trp) was confirmed to be associated with a severe TTD phenotype.
  • This study expands the spectrum of known genetic mutations causing trichothiodystrophy.

Implications:

  • The findings contribute to a better understanding of the genetic basis of trichothiodystrophy.
  • Identification of novel mutations aids in genetic diagnosis and counseling for affected families.
  • Further research into ERCC2 function may reveal therapeutic targets for TTD and related disorders.