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首页> 外文期刊>Molecular syndromology >Exome Sequencing Identification of EP300 Mutation in a Proband with Coloboma and Imperforate Anus: Possible Expansion of the Phenotypic Spectrum of Rubinstein-Taybi Syndrome
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Exome Sequencing Identification of EP300 Mutation in a Proband with Coloboma and Imperforate Anus: Possible Expansion of the Phenotypic Spectrum of Rubinstein-Taybi Syndrome

机译：先天性结肠癌和肛门穿孔的 EP300 突变的外显子组序列鉴定：Rubinstein-Taybi综合征表型谱的可能扩展

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摘要

Rubinstein-Taybi syndrome (RSTS) is a multisystem developmental disorder characterized by facial dysmorphisms, broad thumbs and halluces, growth retardation, and intellectual disability. In about 8% of RSTS cases, mutations are found in EP300. Previously, the EP300 mutation has been shown to cause the highly variable RSTS phenotype. Using exome sequencing, we identified a de novo EP300 frameshift mutation in a proband with coloboma, facial asymmetry and imperforate anus with minimal RSTS features. Previous molecular studies have demonstrated the importance of EP300 in oculogenesis, supporting the possibility that EP300 mutation may cause ocular coloboma. Since a wide phenotypic spectrum is well known in EP300-associated RSTS cases, the atypical phenotype identified in our proband may be an example of rare manifestations of RSTS.
机译：Rubinstein-Taybi综合征（RSTS）是一种多系统发育障碍，其特征为面部畸形，拇指和幻觉宽泛，发育迟缓和智力残疾。在大约8％的RSTS病例中，在EP300中发现了突变。以前，已经证明EP300突变会引起高度可变的RSTS表型。使用外显子组测序，我们在先证者中发现了从头开始的EP300移码突变，该先证者患有大肠癌，面部不对称和肛门穿孔不足，RSTS特征最少。先前的分子研究已经证明了EP300在眼球发生中的重要性，支持了EP300突变可能引起眼球状结肠癌的可能性。由于在EP300相关的RSTS病例中广泛的表型谱是众所周知的，因此在我们的先证者中鉴定出的非典型表型可能是RSTS罕见表现的一个例子。

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