Here we describe three novel TCOF1 mutations found in unrelated patients with Treacher Collins syndrome. These mutations include one deletion, NM_001135243.2:c.2604_2605delAG (p.Gly869Glufs*3), and two substitutions, NM_001135243.2:c.2575C>T (p.Gln859*) and NM_001135243.2:c.4111G>T (p.Glu1371*). These mutations cause shortening of a protein called Treacle in patients with features typical of TCS. Continuous identification of new mutations is important to expand the mutation base, which is helpful in the diagnosis of both patients and their families

中文翻译：

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Treacher Collins 综合征患者三种新型 TCOF1 突变的鉴定

在这里，我们描述了在 Treacher Collins 综合征无关患者中发现的三种新的 TCOF1突变。这些突变包括一个缺失，NM_001135243.2:c.2604_2605delAG (p.Gly869Glufs*3)，和两个替换，NM_001135243.2:c.2575C>T (p.Gln859*) 和 NM_001135243.2:c.4111G>T (p.Glu1371*)。这些突变导致具有 TCS 典型特征的患者中一种称为糖浆的蛋白质缩短。不断识别新的突变对于扩大突变库很重要，这有助于患者及其家属的诊断