Rubinstein-Taybi syndrome associated with chiari type I malformation caused by a large 16p13.3 microdeletion: A contiguous gene syndrome?

Cezary Wójcik, Kim Volz, Maria Ranola, Karla Kitch, Tariza Karim, Joseph O'Neil, Jodi Smith, Wilfredo Torres-Martinez

Research output: Contribution to journalArticle

20 Scopus citations

Abstract

Rubinstein-Taybi Syndrome (RSTS, OMIM 180849) is a rare condition, which in 65% of cases is caused by haploinsufficiency of CREBBP (cAMP response element binding protein binding protein) localized to 16p13.3. A small subset of RSTS cases caused by 16p13.3 microdeletions involving neighboring genes have been recently suggested to be a true contiguous gene syndrome called severe RSTS or 16p13.3 deletion syndrome (OMIM 610543). In the present report, we describe a case of a 2-year-old female with RSTS who, besides most of the typical features of RSTS has corpus callosum dysgenesis and a Chiari type I malformation which required neurosurgical decompression. CGH microarray showed a ∼520.7 kb microdeletion on 16p13.3 involving CREBBP, ADCY9, and SRL genes. We hypothesize that the manifestations in this patient might be influenced by the haploinsufficiency for ADCY9 and SRL.

Original languageEnglish (US)
Pages (from-to)479-483
Number of pages5
JournalAmerican Journal of Medical Genetics, Part A
Volume152
Issue number2
DOIs
StatePublished - Feb 1 2010

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Keywords

  • 16p13.3 microdeletion
  • Chiari type 1 malformation
  • Contiguous gene syndrome
  • Corpus callosum
  • Rubinstein-Taybi syndrome

ASJC Scopus subject areas

  • Genetics(clinical)
  • Genetics

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