Case Report: Novel Mutations in the PCCB Gene Causing Late-Onset Propionic Acidemia.

病例报告 ： PCCB 基因的新突变导致晚期丙酸血症。

• 影响指数: 4.772
• 发表时间: 2022
• 来源期刊: Front Genet
• DOI: 10.3389/fgene.2022.807822
• PMID: 35368667
• 文章类型: Case Reports
• 中科院分区: Q2
• 方向: 生物
• 作者列表: Ji G,Liu Y,Song X,Li Z,Ji G,Liu Y,Song X,Li Z

关键词: PCCB gene; clinical exome sequencing; late onset; novel mutation; propionic acidemia; PCCB gene; clinical exome sequencing; late onset; novel mutation; propionic acidemia

Abstract

Introduction: Propionic acidemia is an autosomal recessive metabolic disorder and the patients with adult onset are very rare. Methods: Two PCCB mutations were identified. Clinical data were collected from a patient, and metabolic screening and clinical exome sequencing analysis were performed. Results: Two novel mutations were identified in the PCCB gene: M1:c.404_406del:p.G135del and M2:c.632C>T:p.T211I. Conclusion: Late-onset propionic acidemia should be taken into account, and metabolic screening as well as gene analysis should be performed to make a definite diagnosis timely.

摘要

简介：丙酸血症是一种常染色体隐性代谢紊乱，成年患者非常罕见。方法:鉴定2个PCCB基因突变。收集了一名患者的临床数据，进行代谢筛查和临床外显子组测序分析。结果：在PCCB基因中鉴定出两个新的突变：M1：c.404_406del：p。G135del和M2：c.632C>T：p。T211I.结论:应考虑晚发型丙酸血症,应进行代谢筛查和基因分析，及时做出明确诊断。