Li Weiran, Lu Xiaowei, Shu Jianbo, Cai Yingzi, Li Dong, Cai Chunquan
Graduate College of Tianjin Medical University, Tianjin, People's Republic of China.
Tianjin Children's Hospital (Children's Hospital of Tianjin University), Tianjin, People's Republic of China.
Glob Med Genet. 2024 Jan 16;11(1):20-24. doi: 10.1055/s-0043-1777807. eCollection 2024 Jan.
encodes protein Cep152, which associates with centrosome function. The lack of Cep152 can cause centrosome duplication to fail. mutates, causing several diseases such as Seckel syndrome-5 and primary microencephaly-9. 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 gene was verified by Sanger sequencing and quantitative real-time polymerase chain reaction technology. We discovered three variants-two of them from and one from . The result showed the variants in only. The patient presented with seizures frequently. Sanger sequencing showed two novel variants in are in exon26 (NM_014985.3 c.3968C > A p.Ser1323*) and in exon16 (NM_014985.3 c.2034_2036del p.Tyr678*). We reported a novel compound-heterozygous variant in the 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.
编码与中心体功能相关的蛋白质Cep152。缺乏Cep152会导致中心体复制失败。发生突变，会引发多种疾病，如Seckel综合征5型和原发性小头畸形9型。在本研究中，我们报告了一名在天津儿童医院被诊断为癫痫的患者。我们进行了临床检查和实验室检测，并对先证者及其父母的外周血进行了全外显子测序。通过Sanger测序和定量实时聚合酶链反应技术验证了该基因中疑似的复合杂合变异。我们发现了三个变异——其中两个来自……，一个来自……。结果仅显示了……中的变异。该患者频繁出现癫痫发作。Sanger测序显示……中的两个新变异分别在外显子26（NM_014985.3 c.3968C＞A p.Ser1323*）和外显子16（NM_014985.3 c.2034_2036del p.Tyr678*）。在本研究中，我们报告了……基因中的一种新的复合杂合变异。大多数表型为Seckel综合征和原发性小头畸形，而这种新变异可能导致一种非典型表型，即癫痫。
