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Phenotypic expansion in Zhu-Tokita-Takenouchi-Kim syndrome caused by de novo variants in the SON gene.
Molecular Genetics & Genomic Medicine ( IF 1.5 ) Pub Date : 2020-07-24 , DOI: 10.1002/mgg3.1432 Ryszard Slezak 1 , Robert Smigiel 2 , Malgorzata Rydzanicz 3 , Agnieszka Pollak 3 , Joanna Kosinska 3 , Piotr Stawinski 3 , Maria Malgorzata Sasiadek 1 , Rafal Ploski 3
Molecular Genetics & Genomic Medicine ( IF 1.5 ) Pub Date : 2020-07-24 , DOI: 10.1002/mgg3.1432 Ryszard Slezak 1 , Robert Smigiel 2 , Malgorzata Rydzanicz 3 , Agnieszka Pollak 3 , Joanna Kosinska 3 , Piotr Stawinski 3 , Maria Malgorzata Sasiadek 1 , Rafal Ploski 3
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The genetic etiology of intellectual and psychomotor disability without a defined spectrum of dysmorphic features is usually monogenic. As no diagnostic criteria for such diseases are established, the clinical diagnosis becomes to be a challenge. The object of our paper is to present two patients with non‐specific clinical symptoms for whom whole‐exome‐sequencing identified the new SON mutations and thus allowed for establishing the diagnosis of Zhu‐Tokita‐Takenouchi‐Kim (ZTTK) syndrome. In both patients, the same symptoms including hypotonia, developmental and speech delay, feeding difficulties as well as frequent infections of the respiratory tract and internal ear were observed. However, both cases presented also with exceptional symptoms such as in case 1 ventriculomegaly and asymmetry of ventricles, hypoplastic left heart syndrome (HLHS), intellectual disability, intestinal malrotation, gastroparesis, and duodenal atresia and in the case 2 febrile seizures and reduced IgA levels. We will be presenting the patients and comparing them to 30 previously described cases.
中文翻译：
由SON基因的新变异引起的Zhu-Tokita-Takenouchi-Kim综合征的表型扩展。
没有定义的畸形特征谱的智力和精神运动障碍的遗传病因通常是单基因的。由于没有建立用于此类疾病的诊断标准，因此临床诊断成为挑战。本文的目的是介绍两名具有非特异性临床症状的患者，他们通过全基因组测序确定了新的SON突变，从而可以诊断出Zhu-Tokita-Takenouchi-Kim（ZTTK）综合征。在这两名患者中，观察到相同的症状，包括肌张力低下，发育和语言延迟，进食困难以及呼吸道和内耳的频繁感染。但是，这两种情况也都表现出异常症状，例如第1例脑室肥大和心室不对称，发育不良的左心综合征（HLHS），智力障碍，肠旋转不良，胃轻瘫和十二指肠闭锁，并有2例高热惊厥和IgA水平降低。我们将介绍患者并将其与30个先前描述的病例进行比较。
更新日期：2020-07-24
中文翻译：
由SON基因的新变异引起的Zhu-Tokita-Takenouchi-Kim综合征的表型扩展。
没有定义的畸形特征谱的智力和精神运动障碍的遗传病因通常是单基因的。由于没有建立用于此类疾病的诊断标准，因此临床诊断成为挑战。本文的目的是介绍两名具有非特异性临床症状的患者，他们通过全基因组测序确定了新的SON突变，从而可以诊断出Zhu-Tokita-Takenouchi-Kim（ZTTK）综合征。在这两名患者中，观察到相同的症状，包括肌张力低下，发育和语言延迟，进食困难以及呼吸道和内耳的频繁感染。但是，这两种情况也都表现出异常症状，例如第1例脑室肥大和心室不对称，发育不良的左心综合征（HLHS），智力障碍，肠旋转不良，胃轻瘫和十二指肠闭锁，并有2例高热惊厥和IgA水平降低。我们将介绍患者并将其与30个先前描述的病例进行比较。
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