Abstract：
BACKGROUND: The CEP104 gene (OMIM: 616,690) encodes the centrosome protein 104 (CEP104) that is involved in cilia function. Pathogenic variants in this gene have been described in four patients diagnosed with Joubert syndrome (JBTS) 25. Here, we challenged the concept that pathogenic variants in CEP104 gene are only involved in the development of JBTS 25.
RESULTS: In a clinical setting, whole-exome sequencing (WES) was applied to investigate pathogenic variants in patients with unexplained developmental delay or intellectual disability (DD/ID).WES revealed a novel homozygous nonsense variant (c.643C > T) in CEP104 (NM _014704.3) in a girl with mild intellectual disability, hypotonia, and imbalanced gait. Her brain MRI data did not show molar tooth sign (MTS) or any other brain anomalies.
CONCLUSIONS: Our study introduced a novel variant in the CEP104 gene that results in an ID phenotype other than JBTS25. Comparison of her phenotype with that of eight previously published DD/ID patients harboring pathogenic variants in CEP104 gene revealed that more than half of them did not show JBTS related symptoms. Therefore, we suggest that the CEP104 gene might also be involved in a disorder other than JBTS 25, a point that deserves to be emerged in the OMIM database.
RESULTS: In a clinical setting, whole-exome sequencing (WES) was applied to investigate pathogenic variants in patients with unexplained developmental delay or intellectual disability (DD/ID).WES revealed a novel homozygous nonsense variant (c.643C > T) in CEP104 (NM _014704.3) in a girl with mild intellectual disability, hypotonia, and imbalanced gait. Her brain MRI data did not show molar tooth sign (MTS) or any other brain anomalies.
CONCLUSIONS: Our study introduced a novel variant in the CEP104 gene that results in an ID phenotype other than JBTS25. Comparison of her phenotype with that of eight previously published DD/ID patients harboring pathogenic variants in CEP104 gene revealed that more than half of them did not show JBTS related symptoms. Therefore, we suggest that the CEP104 gene might also be involved in a disorder other than JBTS 25, a point that deserves to be emerged in the OMIM database.
摘要：
背景：CEP104基因（OMIM：616,690）编码与纤毛功能有关的中心体蛋白104（CEP104）。该基因中的致病变异已经在4名诊断为Joubert综合征(JBTS)的患者中描述。这里,我们质疑CEP104基因的致病变异只参与JBTS25的发展。
结果：在临床环境中，本研究应用全外显子组测序(WES)研究了原因不明的发育迟缓或智力残疾(DD/ID)患者的致病变异.WES在患有轻度智力障碍的女孩的CEP104（NM_014704.3）中揭示了一种新的纯合无义变体（c.643C>T），低张力,和不平衡的步态。她的脑部MRI数据未显示磨牙征（MTS）或任何其他脑部异常。
结论：我们的研究在CEP104基因中引入了一种新的变异体，该变异体导致了除JBTS25以外的ID表型。将她的表型与先前发表的8名携带CEP104基因致病变体的DD/ID患者的表型进行比较，发现其中一半以上没有表现出JBTS相关症状。因此,我们认为CEP104基因也可能与JBTS25以外的疾病有关,这一点值得在OMIM数据库中出现.
结果：在临床环境中，本研究应用全外显子组测序(WES)研究了原因不明的发育迟缓或智力残疾(DD/ID)患者的致病变异.WES在患有轻度智力障碍的女孩的CEP104（NM_014704.3）中揭示了一种新的纯合无义变体（c.643C>T），低张力,和不平衡的步态。她的脑部MRI数据未显示磨牙征（MTS）或任何其他脑部异常。
结论：我们的研究在CEP104基因中引入了一种新的变异体，该变异体导致了除JBTS25以外的ID表型。将她的表型与先前发表的8名携带CEP104基因致病变体的DD/ID患者的表型进行比较，发现其中一半以上没有表现出JBTS相关症状。因此,我们认为CEP104基因也可能与JBTS25以外的疾病有关,这一点值得在OMIM数据库中出现.
