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首页> 外文期刊>American journal of medical genetics, Part A >Two patients with EP300 mutations and facial dysmorphism different from the classic Rubinstein-Taybi syndrome.
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Two patients with EP300 mutations and facial dysmorphism different from the classic Rubinstein-Taybi syndrome.

机译：两名患有EP300突变和面部畸形的患者不同于经典的鲁宾斯坦-塔比综合征。

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摘要

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.7100delC mutation in EP300 (which predicts p.P2366RfsX35) in the woman and an apparently de novo c.638delG 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.
机译：Rubinstein-Taybi综合征（RTS）的特征是智力低下，拇指宽大，脚趾大和可识别的颅面表型。在CREBBP和EP300基因中已经描述了致病性突变。在这里，我们介绍了一个19岁的女人和一个无关的3岁的男孩，他们的拇指和错觉都很宽阔，但是面部表情不同于典型的RTS。该妇女有明显的学习障碍，但没有智力障碍。我们在女性中发现了EP300中的新生c.7100delC突变（预测为p.P2366RfsX35），在男孩中发现了新生c.638delG突变，预测为p.G213EfsX6。 EP300中的突变是RTS的已知但罕见原因。仅报告了另外五名患者。我们建议与CREBBP突变的个体相比，具有EP300突变的个体可能表现出略有不同的表型，认知障碍较轻，小头畸形更明显，睑裂缺乏或轻度下斜，眉毛呈拱形，并且逆行程度更高。

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