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

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 approximately 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.

• Authors: Cezary Wójcik, Kim Volz, Maria Ranola, Karla Kitch, Tariza Karim, Joseph O'Neil, Jodi Smith, Wilfredo Torres-Martinez
• Journal: American journal of medical genetics. Part A (Am J Med Genet A) Vol. 152A Issue 2 Pg. 479-83 (Feb 2010) ISSN: 1552-4833 [Electronic] United States
• PMID: 20101707 (Publication Type: Case Reports, Journal Article)
• Copyright: Copyright 2010 Wiley-Liss, Inc.

Chemical References

• Membrane Proteins
• sarcalumenin
• CREB-Binding Protein
• Adenylyl Cyclases
• adenylate cyclase 9

Topics

• Adenylyl Cyclases (genetics)
• Adult
• Agenesis of Corpus Callosum
• Arnold-Chiari Malformation (complications, genetics)
• CREB-Binding Protein (genetics)
• Chromosomes, Human, Pair 16
• Comparative Genomic Hybridization
• Corpus Callosum (pathology)
• Cytogenetics
• Female
• Gene Deletion
• Humans
• Infant
• Magnetic Resonance Imaging (methods)
• Male
• Membrane Proteins (genetics)
• Oligonucleotide Array Sequence Analysis
• Rubinstein-Taybi Syndrome (complications, genetics)
• Syndrome