Two Patients With EP300 Mutations and Facial Dysmorphism Different From the Classic Rubinstein-Taybi Syndrome
Two Patients With EP300 Mutations and Facial Dysmorphism Different From the Classic Rubinstein-Taybi Syndrome
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DOI：
10.1002/ajmg.a.33153
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发表时间：
2010-01-01
影响因子：
2
通讯作者：
Haaf, Thomas
中科院分区：
文献类型：
--
作者：
Bartsch, Oliver;Labonte, Janette;Haaf, Thomas
Rubinstein-Taybi综合征（RTS）的特征是智力低下，宽拇指和大脚趾和可识别的颅面表型。在CREBBP和EP 300基因中已经描述了致病突变。在这里，我们提出了一个19岁的女人和一个无关的3岁的男孩，都有广泛的拇指和幻觉，但面部方面不同于典型的RTS。这名妇女有明显的学习障碍，但没有智力迟钝。我们在女性中发现了EP 300中的一个从头c.7100de1C突变（预测p.P2366RfsX35），在男孩中发现了一个明显的从头c.638de1G突变，预测p.G213EfsX6。EP 300突变是RTS的已知但罕见的原因。只有5名患者被报告。我们认为，与CREBBP突变的个体相比，EP 300突变的个体可能表现出略微不同的表型，具有较轻的认知障碍，更明显的小头畸形，眼睑裂隙不存在或轻度下斜，明显的拱形眉毛，以及更大程度的下颌后缩。(C)2009 Wiley-Liss，Inc.
Rubinstein-Taybi syndrome (RTS) is characterized by mental retardation, broad thumbs and great toes and a recognizable craniofacial phenotype. Causative mutations have been described in the CREBBP and EP300 genes. Here we present a 19-year-old woman and an unrelated 3-year-old boy, both with broad thumbs and halluces, but with facial aspects distinct from those of typical RTS. The woman had a marked learning disability, but no mental retardation. We identified a de novo c.7100de1C mutation in EP300 (which predicts p.P2366RfsX35) in the woman and an apparently de novo c.638de1G mutation in the boy, which predicts p.G213EfsX6. Mutations in EP300 are a known but rare cause of RTS. Only five other patients have been reported. We propose that individuals with EP300 mutations may exhibit a slightly different phenotype compared to individuals with CREBBP mutations, with milder cognitive impairment, more pronounced microcephaly, absent or mild downslanting of palpebral fissures, distinct arched eyebrows, and greater degree of retrognathia. (C) 2009 Wiley-Liss, Inc.