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Title: [A case of Okur-Chung syndrome caused by CSNK2A1 gene variation and review of literature].
Author: Duan HL, Peng J, Pang N, Chen SM, Xiong J, Guang SQ, Yin F.
Journal: Zhonghua Er Ke Za Zhi; 2019 May 02; 57(5):368-372. PubMed ID: 31060130.
Abstract:
Objective: To summarize the clinical features and gene variation characteristics of a child with Okur-Chung syndrome caused by CSNK2A1 gene variation. Methods: The medical records of one patient who was diagnosed with Okur-Chung syndrome in Department of Pediatrics, Xiangya Hospital of Central South University in July 2018 were analyzed. Using "CSNK2A1" gene as the keyword, relevant information about CSNK2A1 gene was searched at CNKI, Wangfang Data, OMIM, PubMed, ClinVar, Decipher (until August 2018). The characteristics of CSNK2A1 gene variation and the clinical phenotype of children with Okur-Chung syndrome were summarized. Results: The boy, 1 year and 8 months old, was sent to hospital at the age of 1 year and 6 months because of delayed growth for more than 1 year. He was susceptible to cough while eating or drinking. He was also suffering from constipation and poor sleep. Physical examination showed that his body weight was 10.2 kg, microcephalus, broad nasal bridge, micrognathia and hypotonia were observed. Whole exome-sequencing test identified a de novo heterozygous variation c.524A>G (p.D175G) in CSNK2A1 gene. This was the first case report of CSNK2A1 gene variation in the mainland of China. So far, a total of 52 cases were reported worldwide (52 single nucleotide variants), including 35 cases in 7 articles, 9 cases in Decipher database and 14 cases in ClinVar database, 6 of which were also reported in PubMed. In previously reported 52 cases, there were 48 missense variants, whereas, splice and frameshift variations were found in 3 cases and 1 case, respectively. Among the variation sites, p.K198R was the most common sites (12 cases), followed by p.R47 (6 cases), p.R80H (4 cases) and p.S51 (4 cases). Among these 52 cases, only 27 cases have been elaborately described in other studies, so the clinical characteristics were summarized in 28 cases eventually (including 27 cases in the articles and this patient), 27 of whom presented severe intellectual disability or global development delay, 1 case with mild language development delay, and 19 had hypotonia; 8 had autism spectrum disorders, 5 had attention deficit hyperactivity disorder, and 9 had sleep problems. 20 had dysmorphic facial features, 10 of them had microcephalus. 16 had failure to thrive or short stature, 12 had gastrointestinal or oromotor problem, 5 had immunological problem, and 4 had skin abnormalities. Conclusions: The main clinical feature of patients with CSNK2A1 gene variations is intellectual disability with multiple systems involved, such as microcephalus, abnormal facial shape and hypotonia. The variation of CSNK2A1 gene is the cause of Okur-Chung syndrome. Missense variation is the main cause, and P. K198R is the hotspot variation. 目的：总结1例CSNK2A1基因变异致Okur-Chung综合征患儿的临床表现和基因变异特点。 方法：回顾性分析2018年7月在中南大学湘雅医院儿科明确诊断的1例CSNK2A1基因变异导致的Okur-Chung综合征患儿的临床资料。以"CSNK2A1基因"或"CSNK2A1 gene"为检索词查阅国内外数据库如中国知网、万方、OMIM、PubMed、Decipher、ClinVar等（建库至2018年8月），总结CSNK2A1基因变异特点以及Okur-Chung综合征患儿的临床特点。 结果：患儿男，1岁8月龄。1岁6月龄因"发育迟缓1年余"就诊，考虑"全面发育落后"。患儿饮食、饮水易呛咳，便秘，夜间睡眠差。体格检查：体重10.2 kg，小头畸形，鼻梁宽，下颌小，四肢肌张力低下。全外显子测序分析示CSNK2A1基因（NM_177559）新生杂合错义变异，变异位点为c.524A>G（p.D175G），中国内地尚无CSNK2A1基因变异患儿报道。全球共检索到52例CSNK2A1基因变异致病患者（共52个CSNK2A1基因单核苷酸变异），包括7篇文献报道的35例、Decipher数据库报道9例、ClinVar数据库报道14例，其中ClinVar数据库中6例与文献报道重复。52例变异类型以错义变异为主（48例），少数为剪切变异（3例）、移码变异（1例）；变异位点中p.K198R最常见（12例），考虑为热点变异，其次包括p.R47（6例）、p.R80H（4例）、p.S51（4例）。临床特点总结最终纳入文献中有详细报道的27例与本例共28例，其中严重发育迟缓或全面发育落后27例，轻度语言发育落后1例；肌张力减低19例；合并孤独症8例，注意缺陷多动5例，睡眠障碍9例。28例中面部异常改变20例，其中小头畸形10例；发育落后或身材矮小16例；胃肠道受累12例；免疫系统异常5例；皮肤改变4例。 结论：Okur-Chung综合征的主要表型为智力障碍合并多系统受累，可见小头畸形、面部异常改变及肌张力低下等，CSNK2A1基因变异是其致病原因，以错义变异为主，p.K198R为热点变异。.

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