X-linked and mitochondrial disorders

Lauretta El Hayek, Maria Chahrour

Research output: Chapter in Book/Report/Conference proceedingChapter


X-linked disorders have been historically recognized for their characteristic inheritance pattern observed in families with multiple affected males born to unaffected mothers. This type of transmission pattern and pedigree structure led to the identification of Fragile X syndrome as one of the major causes of intellectual disability in males. Mitochondrial disorders, on the other hand, have long been studied as some of the major metabolic disorders in infants due to defects in the energy-producing organelles of the cell. In this chapter, the genomic techniques that have impacted our understanding of X-linked and mitochondrial disease traits are reviewed. The challenges to consider when investigating these disorders, including incomplete X-chromosome inactivation and skewing, heteroplasmy in mitochondrial disorders, and nuclear-mitochondrial intergenomic communication are also discussed. The importance of understanding the biological pathways in which disease-associated genes are involved and regulate, and the molecular mechanisms underlying disease pathophysiology cannot be understated, as these are indispensable for molecular diagnostics and the design of targeted therapeutics for these disorders.

Original languageEnglish (US)
Title of host publicationGenomics of Rare Diseases
Subtitle of host publicationUnderstanding Disease Genetics Using Genomic Approaches
Number of pages13
ISBN (Electronic)9780128201404
ISBN (Print)9780128204368
StatePublished - Jan 1 2021


  • X-chromosome inactivation
  • X-linked disorder
  • X-linked inheritance
  • heteroplasmy
  • homoplasmy
  • mitochondria
  • mitochondrial disorder
  • mitochondrial genome
  • skewing

ASJC Scopus subject areas

  • General Medicine
  • General Biochemistry, Genetics and Molecular Biology


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