Family Medicine Residency Program, Deaconess Hospital, Evansville, Indiana, USA.
Am J Med Genet A. 2010 Feb;152A(2):479-83. doi: 10.1002/ajmg.a.33303.
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.
鲁宾斯坦-泰比综合征（RSTS，OMIM 180849）是一种罕见的疾病，在 65%的病例中，是由 16p13.3 定位的 CREBBP（cAMP 反应元件结合蛋白结合蛋白）单倍体不足引起的。最近，有人提出，一小部分由涉及邻近基因的 16p13.3 微缺失引起的 RSTS 病例是一种真正的连续基因综合征，称为严重 RSTS 或 16p13.3 缺失综合征（OMIM 610543）。在本报告中，我们描述了一例 2 岁女性 RSTS 患者，除了 RSTS 的大多数典型特征外，还存在胼胝体发育不良和 Chiari Ⅰ型畸形，需要神经外科减压。CGH 微阵列显示 16p13.3 上约 520.7 kb 的微缺失，涉及 CREBBP、ADCY9 和 SRL 基因。我们假设该患者的表现可能受到 ADCY9 和 SRL 单倍体不足的影响。
