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Genomic disorders on 22q11.

Heather E McDermid1, Bernice E Morrow

  • 1Department of Biological Sciences, University of Alberta, Edmonton, Alberta, Canada.

American Journal of Human Genetics
|April 2, 2002
PubMed
Summary

Genomic disorders in the 22q11 region, including cat-eye syndrome (CES) and velocardiofacial/DiGeorge syndrome (VCFS/DGS), arise from altered gene dosage due to chromosomal rearrangements. Understanding these rearrangements and gene functions is key to addressing associated congenital malformations and intellectual disabilities.

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Area of Science:

  • Genetics
  • Molecular Biology
  • Human Disease

Background:

  • The 22q11 chromosomal region is implicated in genomic disorders characterized by intellectual disability and congenital malformations.
  • Three specific disorders—cat-eye syndrome (CES), der(22) syndrome, and velocardiofacial/DiGeorge syndrome (VCFS/DGS)—result from varying gene dosage alterations in this critical region.

Purpose of the Study:

  • To investigate the chromosomal rearrangements and molecular mechanisms underlying genomic disorders in the 22q11 region.
  • To identify candidate genes responsible for the clinical phenotypes associated with CES, der(22) syndrome, and VCFS/DGS.

Main Methods:

  • Molecular approaches were used to identify common chromosome breakpoints shared across the three disorders.
  • Analysis of the 22q11 genomic interval and orthologous mouse regions was performed to identify shared genes.

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  • Homologous and nonhomologous recombination mechanisms were investigated as causes of rearrangements.

    • Main Results:

    • Common breakpoints suggest shared mechanisms for rearrangements in CES, der(22) syndrome, and VCFS/DGS.
    • Homologous recombination involving low-copy repeats (LCR22) is implicated in most VCFS/DGS and CES rearrangements.
    • Nonhomologous recombination leads to the constitutional t(11;22) translocation, and meiotic nondisjunction in carriers can cause der(22) syndrome.

    Conclusions:

    • Understanding the molecular basis of 22q11 genomic disorders is advancing through the identification of shared genes and rearrangement mechanisms.
    • Mouse models are crucial for identifying candidate genes and elucidating the phenotypic consequences of these genomic alterations.
    • Continued research will enhance knowledge of chromosomal rearrangement mechanisms and their role in human genetic disorders.