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Rubinstein–Taybi syndrome associated with Chiari type I malformation caused by a large 16p13.3 microdeletion: A contiguous gene syndrome?
Author(s) -
Wójcik Cezary,
Volz Kim,
Ranola Maria,
Kitch Karla,
Karim Tariza,
O'Neil Joseph,
Smith Jodi,
TorresMartinez Wilfredo
Publication year - 2010
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.33303
Subject(s) - haploinsufficiency , rubinstein–taybi syndrome , corpus callosum , gene , medicine , biology , genetics , pathology , phenotype
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 . © 2010 Wiley‐Liss, Inc.