Dominant and sporadic de novo disorders

Claudia Gonzaga-Jauregui, Lauretta El Hayek, Maria Chahrour

Research output: Chapter in Book/Report/Conference proceedingChapter

Abstract

The genomic techniques developed in recent decades have advanced the field of genetics very rapidly by playing an essential role in identifying disease-causing variation, functionally characterizing many of the ~25,000 computationally annotated genes in the human genome, and elucidating important biological pathways in human health and disease. The study of dominantly inherited disorders has contributed significantly to our understanding of human diseases and traits, both rare and common. This chapter reviews and discusses how genomic techniques, including chromosomal microarray analysis, whole-exome sequencing, and whole-genome sequencing, have impacted our understanding of autosomal dominant and sporadic disease traits. Genomic sequencing of patients with sporadic disorders has revealed and highlighted the important role that de novo mutation plays in human disease. The different mechanisms by which pathogenic variation can lead to dominant and sporadic disorders, and the challenges associated with the study of these disorders, such as incomplete penetrance, are also discussed.

Original languageEnglish (US)
Title of host publicationGenomics of Rare Diseases
Subtitle of host publicationUnderstanding Disease Genetics Using Genomic Approaches
PublisherElsevier
Pages117-135
Number of pages19
ISBN (Electronic)9780128201404
ISBN (Print)9780128204368
DOIs
StatePublished - Jan 1 2021

Keywords

  • Autosomal dominant inheritance
  • de novo mutation
  • dominant negative
  • gain of function
  • haploinsufficiency
  • mutation rate
  • sporadic disorder

ASJC Scopus subject areas

  • Medicine(all)
  • Biochemistry, Genetics and Molecular Biology(all)

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