Exon deletions of the EP300 and CREBBP genes in two children with Rubinstein-Taybi syndrome detected by aCGH

Anne Tsai, Cherilyn J Dossett, Carol S. Walton, Andrea E Cramer, Patti A. Eng, Beata A. Nowakowska, Amber N. Pursley, Pawel Stankiewicz, Joanna Wiszniewska, Sau Wai Cheung

Research output: Contribution to journalArticle

40 Scopus citations

Abstract

We demonstrate the utility of an exon coverage microarray platform in detecting intragenic deletions: one in exons 24-27 of the EP300 gene and another in exons 27 and 28 of the CREBBP gene in two patients with Rubinstein-Taybi syndrome (RSTS). RSTS is a heterogeneous disorder in which ∼45-55% of cases result from deletion or mutations in the CREBBP gene and an unknown portion of cases result from gene changes in EP300. The first case is a 3-year-old female with an exonic deletion of the EP300 gene who has classic facial features of RSTS without the thumb and great toe anomalies, consistent with the milder skeletal phenotype that has been described in other RSTS cases with EP300 mutations. In addition, the mother of this patient also had preeclampsia during pregnancy, which has been infrequently reported. The second case is a newborn male who has the classical features of RSTS. Our results illustrate that exon-targeted array comparative genomic hybridization (aCGH) is a powerful tool for detecting clinically significant intragenic rearrangements that would be otherwise missed by aCGH platforms lacking sufficient exonic coverage or sequencing of the gene of interest.

Original languageEnglish (US)
Pages (from-to)43-49
Number of pages7
JournalEuropean Journal of Human Genetics
Volume19
Issue number1
DOIs
StatePublished - 2011
Externally publishedYes

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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    Tsai, A., J Dossett, C., Walton, C. S., E Cramer, A., Eng, P. A., Nowakowska, B. A., Pursley, A. N., Stankiewicz, P., Wiszniewska, J., & Cheung, S. W. (2011). Exon deletions of the EP300 and CREBBP genes in two children with Rubinstein-Taybi syndrome detected by aCGH. European Journal of Human Genetics, 19(1), 43-49. https://doi.org/10.1038/ejhg.2010.121