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首页> 外文期刊>American journal of medical genetics, Part A >GATA6 GATA6 mutations: Characterization of two novel patients and a comprehensive overview of the GATA6 genotypic and phenotypic spectrum
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GATA6 GATA6 mutations: Characterization of two novel patients and a comprehensive overview of the GATA6 genotypic and phenotypic spectrum

机译：GATA6 GATA6突变：两种新患者的表征及GATA6基因型和表型谱的全面概述

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Abstract The first human mutations in GATA6 were described in a cohort of patients with persistent truncus arteriosus, and the phenotypic spectrum has expanded since then. This study underscores the broad phenotypic spectrum by presenting two patients with de novo GATA6 mutations, both exhibiting complex cardiac defects, pancreatic, and other abnormalities. Furthermore, we provided a detailed overview of all published human genetic variation in/near GATA6 published to date and the associated phenotypes ( n = 78). We conclude that the most common phenotypes associated with a mutation in GATA6 were structural cardiac and pancreatic abnormalities, with a penetrance of 87 and 60%, respectively. Other common malformations were gallbladder agenesis, congenital diaphragmatic hernia, and neurocognitive abnormalities, mostly developmental delay. Fifty‐eight percent of the mutations were de novo, and these patients more often had an anomaly of intracardiac connections, an anomaly of the great arteries, and hypothyroidism, compared with those with inherited mutations. Functional studies mostly support loss‐of‐function as the pathophysiological mechanism. In conclusion, GATA6 mutations give a wide range of phenotypic defects, most frequently malformations of the heart and pancreas. This highlights the importance of detailed clinical evaluation of identified carriers to evaluate their full phenotypic spectrum.
机译：摘要在持久的Truncus arteriosus患者队列中描述了GATA6中的第一个人类突变，并且从那时起，表型光谱已经扩增。本研究通过呈现两种患有DE Novo GATA6突变的患者，展示了患有复杂的心脏缺陷，胰腺和其他异常的患者来强调广泛的表型谱。此外，我们提供了迄今为止发布的所有已发表的人类遗传变异/附近的所有已发表的人类遗传变异和相关表型（n = 78）。我们得出结论，与GATA6中突变相关的最常见的表型是结构心脏和胰腺异常，分别为87％和60％。其他常见的畸形是胆囊炎，先天性膈疝和神经认知异常，主要是发育延迟。五十八百％的突变是De Novo，这些患者更常常具有心内联系的异常，这是具有遗传突变的遗传性突变的大动脉的异常和甲状腺功能减退症。功能性研究主要支持函数丧失作为病理生理机制。总之，GATA6突变提供了广泛的表型缺陷，心脏和胰腺的最常畸形。这突出了详细临床评价鉴定的载体来评估其全表型谱的重要性。

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