title: 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.affiliation: Family Medicine Residency Program, Deaconess Hospital, Evansville, Indiana, USA. cwojcik@iupui.edu
authors.forename: Cezary
authors.initials: C
authors.lastname: Wójcik
authors.forename: Kim
authors.initials: K
authors.lastname: Volz
authors.forename: Maria
authors.initials: M
authors.lastname: Ranola
authors.forename: Karla
authors.initials: K
authors.lastname: Kitch
authors.forename: Tariza
authors.initials: T
authors.lastname: Karim
authors.forename: Joseph
authors.initials: J
authors.lastname: O'Neil
authors.forename: Jodi
authors.initials: J
authors.lastname: Smith
authors.forename: Wilfredo
authors.initials: W
authors.lastname: Torres-Martinez
mesh_terms: D000262:Adenylyl Cyclases / Q000235:genetics; D000328:Adult; D061085:Agenesis of Corpus Callosum; D001139:Arnold-Chiari Malformation / Q000150:complications / Q000235:genetics*; D050882:CREB-Binding Protein / Q000235:genetics; D002885:Chromosomes, Human, Pair 16; D055028:Comparative Genomic Hybridization; D003337:Corpus Callosum / Q000473:pathology; D003582:Cytogenetics; D005260:Female; D017353:Gene Deletion; D006801:Humans; D007223:Infant; D008279:Magnetic Resonance Imaging / Q000379:methods; D008297:Male; D008565:Membrane Proteins / Q000235:genetics; D020411:Oligonucleotide Array Sequence Analysis; D012415:Rubinstein-Taybi Syndrome / Q000150:complications / Q000235:genetics*; D013577:Syndrome
chemical_list: D008565:Membrane Proteins; C070323:sarcalumenin; D050882:CREB-Binding Protein; D000262:Adenylyl Cyclases; C413923:adenylate cyclase 9