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Abstract：
Introduction CEP152 encodes protein Cep152, which associates with centrosome function. The lack of Cep152 can cause centrosome duplication to fail. CEP152 mutates, causing several diseases such as Seckel syndrome-5 and primary microencephaly-9. Methods In this study, we reported a patient diagnosed with epilepsy in Tianjin Children\'s Hospital. We performed clinical examination and laboratory test, and whole-exome sequencing was performed for the proband\'s and his parents\' peripheral blood. The suspected compound-heterozygous variant in the CEP152 gene was verified by Sanger sequencing and quantitative real-time polymerase chain reaction technology. Results We discovered three variants-two of them from CEP152 and one from HPD . The result showed the variants in CEP152 only. The patient presented with seizures frequently. Sanger sequencing showed two novel variants in CEP152 are in exon26 (NM_014985.3 c.3968C > A p.Ser1323*) and in exon16 (NM_014985.3 c.2034_2036del p.Tyr678*). Conclusions We reported a novel compound-heterozygous variant in the CEP152 gene in this study. Most of the phenotypes are Seckel syndrome and primary microencephaly, and the novel variant may cause an atypical phenotype that is epilepsy.
摘要：
引言CEP152编码蛋白Cep152,其与中心体功能相关。缺少Cep152会导致中心体重复失败。CEP152发生变异,引起多种疾病，如Seckel综合征-5和原发性小脑-9。方法在本研究中,我们报告了在天津市儿童医院诊断为癫痫的患者。我们进行了临床检查和实验室检查，并对先证者及其父母的外周血进行全外显子组测序。通过Sanger测序和定量实时聚合酶链反应技术验证了CEP152基因中可疑的复合杂合变体。结果我们发现了三种变体,其中两种来自CEP152,一种来自HPD。结果显示仅在CEP152中的变体。患者经常出现癫痫发作。Sanger测序显示CEP152中的两个新变体位于外显子26（NM_014985.3c.3968C>Ap.Ser1323*）和外显子16（NM_014985.3c.2034_2036delp.Tyr678*）。结论本研究中我们报道了CEP152基因中的一个新的复合杂合变体。大多数表型是塞克尔综合征和原发性小脑，这种新的变异可能会导致一种非典型的癫痫表型。
