无法检测到IDS基因突变的Hunter综合征病例的新遗传分析:RNA测序

IF 0.4 4区 医学 Q4 PEDIATRICS
Abdurrahman Akgun, Bora Ergin, Huseyin Bilgin, Serdar Ceylaner
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引用次数: 0

摘要

简介:粘多糖病- ii (MPSII)是一种基于伊杜醛酸2-硫酸酯酶活性缺乏的诊断。检测到一种半合子致病性变异的伊杜醛酸2-硫酸酯酶(IDS)基因确认诊断在男性先证。病例介绍:我们报告了一名患有MPSII的五岁男孩,通过下一代测序(Miseq-Illumina)覆盖该基因的编码区,未检测到IDS基因突变。因此,我们尝试使用最近使用的RNA测序来检测IDS基因的突变。结论:在一些通过临床和生化方法诊断的疾病中,即使采用先进的遗传方法,如下一代测序,也无法检测到突变。在这些情况下,我们强调应该使用其他方法来研究突变,包括RNA测序。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
New Genetic Analysis in Cases with Hunter Syndrome in Whom IDS Gene Mutations Could Not Be Detected: RNA Sequencing
Introduction: Mucopolysaccharidosis-II (MPSII) is diagnosed based on a deficiency in iduronate 2-sulfatase enzyme activity. Detection of a hemizygous pathogenic variant in the iduronate 2-sulfatase (IDS) gene confirms the diagnosis in a male proband. Case Presentation: We report a five-year-old boy with MPSII in whom no mutation was detected in the IDS gene by next-generation sequencing (Miseq-Illumina) covering the coding regions of the gene. Therefore, we tried to detect the mutation in the IDS gene using RNA sequencing that has recently been used. Conclusions: In some diseases diagnosed by clinical and biochemical methods, mutations cannot be detected even with advanced genetic methods, such as next-generation sequencing. In these cases, we emphasize that mutations should be investigated using other methods, including RNA sequencing.
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来源期刊
CiteScore
0.90
自引率
20.00%
发文量
75
审稿时长
6-12 weeks
期刊介绍: Iranian Journal of Pediatrics (Iran J Pediatr) is a peer-reviewed medical publication. The purpose of Iran J Pediatr is to increase knowledge, stimulate research in all fields of Pediatrics, and promote better management of pediatric patients. To achieve the goals, the journal publishes basic, biomedical, and clinical investigations on prevalent diseases relevant to pediatrics. The acceptance criteria for all papers are the quality and originality of the research and their significance to our readership. Except where otherwise stated, manuscripts are peer-reviewed by minimum three anonymous reviewers. The Editorial Board reserves the right to refuse any material for publication and advises that authors should retain copies of submitted manuscripts and correspondence as the material cannot be returned. Final acceptance or rejection rests with the Editors.
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