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Mosaicism in Cutaneous Disorders

Young H Lim1,2, Zoe Moscato1, Keith A Choate1,2

  • 1Department of Dermatology, Yale University School of Medicine, New Haven, Connecticut 06520, USA;

Annual Review of Genetics
|November 28, 2017
PubMed

Insights

Genetic mosaicism, where a zygote has multiple genotypes from early mutations, causes varied diseases. Cutaneous mosaic disorders reveal genetic pathways and therapeutic targets for translation.

Area of Science:

  • Genetics
  • Developmental Biology
  • Dermatology

Background:

  • Genetic mosaicism results from de novo mutations in a zygote, leading to distinct genotypes within an individual.
  • The timing and cell type affected by mutations dictate disease manifestation, ranging from localized lesions to multi-systemic disorders.
  • Somatic genomic mosaicism is confined to the affected individual, while germline or gonosomal mosaicism is heritable.

Purpose of the Study:

  • To review examples of cutaneous mosaicism and their clinical presentations.
  • To discuss methodologies for gene discovery in mosaic disorders.
  • To explore molecular pathobiology insights with potential for clinical translation.

Main Methods:

  • Review of existing literature on cutaneous mosaic disorders.
  • Analysis of genetic investigation approaches for identifying causative genes.
  • Discussion of pathobiological mechanisms underlying these conditions.

Main Results:

  • Cutaneous mosaic disorders provide a visible model for understanding mosaicism due to distinct mutant cell populations.
  • Genetic studies have identified key pathways involved in disease pathogenesis.
  • Insights into molecular mechanisms offer potential for novel therapeutic strategies.

Conclusions:

  • Cutaneous mosaicism offers valuable insights into genetic disease mechanisms and therapeutic development.
  • Understanding the pathobiology of mosaic disorders can lead to clinical translation and improved patient outcomes.
Keywords:
RASopathyepigenetic mosaicismlines of Blaschkononsegmental mosaicismrevertant mosaicismsegmental mosaicismsomatic mutation

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