Abstract：
Jaberi-Elahi syndrome is an extremely rare genetic disease caused by pathogenic variants in GTPBP2. The core symptoms of this disease are intellectual disability, motor development delay, abnormal reflexes, skeletal abnormalities, and visual impairment. In this study, we describe a three-year-old girl with a novel homozygous variant in GTPBP2 and a phenotype overlapping with Jaberi-Elahi syndrome. This variant (NM_019096.5:c.1289T > C, p.Leu430Pro) was identified by Whole Exome Sequencing and confirmed by Sanger sequencing although remains classified as VUS based on ACMG criteria. The proband demonstrated motor and intellectual developmental delay, muscle weakness, language disorder, facial dysmorphism, and poor growth. Hitherto, twenty-seven individuals with Jaberi-Elahi syndrome have been reported in the literature. This study, describes a review of the symptoms related to the Jaberi-Elahi syndrome. A large numbers of patients manifest motor development delay (26/28), sparse hair (26/28), and speech disorder (24/28). Moreover, a significant fraction of patients suffer from intellectual disability (23/28), hypotonia (23/28), skeletal problems (23/28), and visual impairment (18/28). In spite of previous patients, the proband in this study did not exhibit any skeletal abnormalities. In summary, we present evidence implicating a novel missense variant in Jaberi-Elahi syndrome, expanding and refining the genetic spectrum of this condition.
摘要：
Jaberi-Elahi综合征是由GTPBP2的致病变异所惹起的一种极其罕见的遗传病。这种疾病的核心症状是智力残疾，电机开发延迟，异常反射,骨骼异常,和视力障碍。在这项研究中,我们描述了一名3岁女孩,她在GTPBP2中出现了一个新的纯合变异体,表型与Jaberi-Elahi综合征重叠.此变体（NM_019096.5：c.1289T>C，p.Leu430Pro）通过全外显子组测序鉴定并通过Sanger测序确认，尽管仍根据ACMG标准分类为VUS。先证者表现出运动和智力发育迟缓，肌肉无力,语言障碍,面部畸形,增长不佳。到目前为止，文献报道了27例Jaberi-Elahi综合征患者。这项研究,描述了与Jaberi-Elahi综合征相关的症状。大量患者表现出运动发育迟缓(26/28)，稀疏的头发（26/28），言语障碍（24/28）。此外，很大一部分患者患有智力残疾(23/28)，低张力（23/28），骨骼问题（23/28），视力障碍（18/28）。尽管以前的病人，本研究中的先证者未表现出任何骨骼异常.总之,我们提出的证据表明Jaberi-Elahi综合征有一个新的错义变异，扩大和完善这种条件的遗传谱。
