Haque Absarul, Naseer Muhammad Imran
Absarul Haque, King Fahd Medical Research Center, Department of Medical Laboratory Technology, Faculty of Applied Medical Sciences, King Abdulaziz University, Jeddah 21589, Saudi Arabia.
Muhammad Imran Naseer, Center of Excellence in Genomic Medicine Research, Department of Medical Laboratory Technology, Faculty of Applied Medical Sciences, King Abdulaziz University, Jeddah 21589, Saudi Arabia.
Pak J Med Sci. 2024 Mar-Apr;40(4):782-784. doi: 10.12669/pjms.40.4.8707.
We identified the gene responsible for the multifunctional sorting protein that play a role in nuclear gene expression as well as pathway traffic regulation. Diseases associated with include early infantile epileptic encephalopathy (EIEE66), alacrima, achalasia, and mental retardation syndrome. Whole exome sequencing (WES) technique was used for the identification of variants that may lead to the disease. We identified a consanguineous Saudi family segregating developmental delay, mental retardation and epilepsy. Our results showed a heterozygous missense variant gene leading to intellectual disability, epilepsy and cause epileptic encephalopathies (EIEE66) disorder. WES data was analyzed and identified variants were further confirmed by Sanger sequencing validation technique. We identified a heterozygous missense c.625G>A p.Glu209Lys in exon-6 of . The detected heterozygous mutation in the exon-6 region of gene change the protein features and may cause disease. Further, explain the possibility that gene play important role to cause intellectual disability, epilepsy and epileptic encephalopathies in this Saudi family.
我们鉴定出了一种多功能分选蛋白的相关基因，该蛋白在核基因表达以及通路运输调控中发挥作用。与之相关的疾病包括早期婴儿癫痫性脑病（EIEE66）、无泪症、贲门失弛缓症和智力发育迟缓综合征。采用全外显子组测序（WES）技术来鉴定可能导致该疾病的变异。我们鉴定出一个近亲结婚的沙特家庭，其成员存在发育迟缓、智力发育迟缓和癫痫症状。我们的结果显示，一个基因的杂合错义变异导致了智力残疾、癫痫，并引发癫痫性脑病（EIEE66）疾病。对WES数据进行了分析，通过桑格测序验证技术进一步确认了所鉴定出的变异。我们在该基因的第6外显子中鉴定出一个杂合错义变异c.625G>A p.Glu209Lys。在该基因第6外显子区域检测到的杂合突变改变了蛋白质特征，可能会引发疾病。此外，还解释了该基因在这个沙特家庭中导致智力残疾、癫痫和癫痫性脑病方面发挥重要作用的可能性。
