Detection of CHD7 deletions by MLPA in CHARGE syndrome patients with a less typical phenotype

  • Wincent J
  • Schulze A
  • Schoumans J
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Abstract

Bergman et al. performed a search for exon copy number alterations in the CHD7 gene using MLPA in CHARGE syndrome patients who did not have a CHD7 mutation. Based on their results they recommended to extend testing using MLPA solely in individuals with a typical CHARGE syndrome phenotype. However, since we have found deletions comprising the CHD7 gene in three patients with a less typical phenotype we recommend performing MLPA testing in all CHARGE syndrome patients without causal CHD7 mutations. © 2009 Elsevier Masson SAS. All rights reserved.

Author-supplied keywords

  • CHARGE syndrome
  • CHD7
  • Deletion
  • MLPA

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Authors

  • Josephine Wincent

  • Astrid Schulze

  • Jacqueline Schoumans

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