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Genomic Imprinting and Inheritance

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Microdeletion syndromes.

Gemma L Carvill1, Heather C Mefford

  • 1Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, WA 98195, USA.

Current Opinion in Genetics & Development
|May 14, 2013
PubMed
Summary
This summary is machine-generated.

Microdeletion syndromes, identified through genome-wide arrays, show varied symptoms and incomplete penetrance. Additional genetic variants, or "second hits," may explain this phenotypic heterogeneity in rare diseases.

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Area of Science:

  • Genomics
  • Medical Genetics
  • Disease Phenotyping

Background:

  • Genome-wide microarray technology has identified numerous microdeletion syndromes.
  • These syndromes exhibit significant phenotypic heterogeneity and incomplete penetrance.
  • Recurrent microdeletions are linked to intellectual disability, autism, epilepsy, and neuropsychiatric disorders.

Purpose of the Study:

  • To explore the causes of variability in microdeletion syndrome phenotypes.
  • To investigate the role of additional low-frequency variants ('second hits').
  • To evaluate prospective approaches for delineating microdeletion syndrome phenotypes.

Main Methods:

  • Genome-wide microarray analysis for identifying genomic rearrangements.
  • Review of recent studies on genetic variants and epigenetic models.
  • Prospective application of massively parallel sequencing and epigenetic models.

Main Results:

  • Microdeletion syndromes are associated with diverse and variable clinical presentations.
  • Incomplete penetrance is a common feature of these syndromes.
  • Low-frequency variants are implicated as contributing factors to phenotypic variability.

Conclusions:

  • Understanding the genetic architecture of microdeletion syndromes requires considering factors beyond the primary deletion.
  • Massively parallel sequencing and epigenetic models offer promising avenues for future research.
  • Further investigation is needed to fully delineate the genotype-phenotype correlations in microdeletion syndromes.