Okur-Chung neurodevelopmental syndrome is a rare autosomal dominant disorder caused by pathogenic variants in CSNK2A1, which encodes the alpha 1 catalytic subunit of ­casein kinase II. This syndrome is characterized by intellectual disability, developmental delay, and multisystemic ­abnormalities including those of the brain, extremities, and skin as well as cardiovascular, gastrointestinal, and immune systems. In this study, we describe a 5-year-old boy with a de novo novel nonsense variant in CSNK2A1, NM_001895.3:c.319C#x3e;T (p.Arg107*). He showed bilateral persistent hyperplastic primary vitreous with microphthalmia, lens dysplasia, and coloboma. Ocular manifestations are very rare in this syndrome, and this study expands the spectrum of the clinical presentations of this syndrome.
Mol Syndromol

中文翻译：

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Okur-Chung 神经发育综合征患者持续性原发性玻璃体增生伴小眼和缺损

Okur-Chung 神经发育综合征是一种罕见的常染色体显性遗传疾病，由编码酪蛋白激酶 II 的 α1 催化亚基的CSNK2A1致病变异引起。这种综合征的特点是智力障碍、发育迟缓和多系统异常，包括大脑、四肢和皮肤以及心血管、胃肠道和免疫系统的异常。在这项研究中，我们描述了一个 5 岁男孩，他在CSNK2A1中有一个新的无意义变体。, NM_001895.3:c.319C#x3e;T (p.Arg107*)。他表现出双侧持续性原发性玻璃体增生伴小眼、晶状体发育不良和缺损。该综合征的眼部表现非常罕见，本研究扩大了该综合征临床表现的范围。
摩尔综合症