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Mutation screening and array comparative genomic hybridization using a 180K oligonucleotide array in VACTERL

Johanna Winberg1, Peter Gustavsson2, Nikos Papadogiannakis3

  • 1Department of Molecular Medicine and Surgery and Center for Molecular Medicine, Karolinska Institutet, Stockholm, Sweden.

Plos One
|January 14, 2014
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Summary
This summary is machine-generated.

Genetic analysis of VACTERL association revealed large gene dose alterations are uncommon causes. However, array comparative genomic hybridization (CGH) remains crucial for diagnosing VACTERL cases.

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Area of Science:

  • Genetics
  • Developmental Biology
  • Medical Diagnostics

Background:

  • VACTERL association is a complex congenital disorder with diverse clinical manifestations.
  • Identifying the genetic underpinnings of VACTERL is crucial for diagnosis and understanding its etiology.
  • Gene dose alterations are potential contributors to VACTERL pathogenesis.

Purpose of the Study:

  • To investigate the role of gene dose alterations in the genetic etiology of VACTERL association.
  • To identify pathogenic mutations in specific genes (PCSK5, HOXD13, CHD7) associated with VACTERL.
  • To assess the utility of array comparative genomic hybridization (array-CGH) in VACTERL diagnostics.

Main Methods:

  • Systematic analysis of DNA samples from VACTERL patients and aborted fetuses using a 180K array-CGH platform.
  • Mutation screening of PCSK5, HOXD13, and CHD7 genes.
  • Analysis of gene dose imbalances and mutations.

Main Results:

  • Pathogenic gene dose imbalances were identified in two fetal cases: a FANCB gene deletion and an unbalanced translocation.
  • A pathogenic mutation in the CHD7 gene was detected.
  • No disease-causing mutations were found in HOXD13 or PCSK5.
  • Large gene dose alterations were not found to be a common cause of VACTERL.

Conclusions:

  • While large gene dose alterations are not a frequent cause of VACTERL association, array-CGH is a valuable tool for diagnosing individual cases.
  • Specific genes like FANCB and CHD7 may play a role in VACTERL pathogenesis.
  • Further research is needed to fully elucidate the genetic landscape of VACTERL.