Sensitivity of transferrin isoform analysis for PMM2-CDG

IF 3.7 2区 生物学 Q2 ENDOCRINOLOGY & METABOLISM Molecular genetics and metabolism Pub Date : 2024-09-01 DOI:10.1016/j.ymgme.2024.108564
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Abstract

Transferrin isoform analysis is an established laboratory test for congenital disorders of glycosylation (CDG). Despite its long history of clinical use, little has been published about its empirical sensitivity for specific conditions. We conducted a retrospective analysis of ten years of testing data and report our experience with transferrin testing for type I profiles and its sensitivity for the most common congenital disorder of glycosylation, PMM2-CDG. The data demonstrate 94% overall test sensitivity for PMM2-CDG and importantly demonstrate two known, recurrent variants enriched in false positive cases highlighting an important limitation of the test. The data confirm the clinical validity of transferrin isotype analysis as a screening test for disorders of protein N-linked glycosylation and as functional test for PMM2 genotypes of uncertain significance.

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转铁蛋白同工酶分析对 PMM2-CDG 的敏感性
转铁蛋白同工酶分析是检测先天性糖基化紊乱(CDG)的一种成熟的实验室检测方法。尽管转铁蛋白的临床应用历史悠久,但有关其对特定病症的经验灵敏度却鲜有报道。我们对十年来的检测数据进行了回顾性分析,报告了转铁蛋白检测I型轮廓的经验及其对最常见的先天性糖基化紊乱(PMM2-CDG)的敏感性。数据显示 PMM2-CDG 的总体检测灵敏度为 94%,重要的是,数据显示假阳性病例中富含两种已知的复发性变异,这凸显了该检测的一个重要局限性。这些数据证实了转铁蛋白异型分析作为蛋白质N-连接糖基化紊乱筛查检验和意义不确定的PMM2基因型功能检验的临床有效性。
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来源期刊
Molecular genetics and metabolism
Molecular genetics and metabolism 生物-生化与分子生物学
CiteScore
5.90
自引率
7.90%
发文量
621
审稿时长
34 days
期刊介绍: Molecular Genetics and Metabolism contributes to the understanding of the metabolic and molecular basis of disease. This peer reviewed journal publishes articles describing investigations that use the tools of biochemical genetics and molecular genetics for studies of normal and disease states in humans and animal models.
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