Patrica L. Hall, Kris Liedke, Coleman Turgeon, Amy White, Gesele Bentz Pino, Dawn Peck, April Studinski, Dimitar Gavrilov, Silvia Tortorelli, Devin Oglesbee, Dietrich Matern, Kimiyo Raymond, Matthew J. Schultz
{"title":"转铁蛋白同工酶分析对 PMM2-CDG 的敏感性","authors":"Patrica L. Hall, Kris Liedke, Coleman Turgeon, Amy White, Gesele Bentz Pino, Dawn Peck, April Studinski, Dimitar Gavrilov, Silvia Tortorelli, Devin Oglesbee, Dietrich Matern, Kimiyo Raymond, Matthew J. Schultz","doi":"10.1016/j.ymgme.2024.108564","DOIUrl":null,"url":null,"abstract":"<div><p>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 <em>PMM2</em> genotypes of uncertain significance.</p></div>","PeriodicalId":18937,"journal":{"name":"Molecular genetics and metabolism","volume":"143 1","pages":"Article 108564"},"PeriodicalIF":3.7000,"publicationDate":"2024-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S1096719224004487/pdfft?md5=488429242a92f1e3b46725149e4da88c&pid=1-s2.0-S1096719224004487-main.pdf","citationCount":"0","resultStr":"{\"title\":\"Sensitivity of transferrin isoform analysis for PMM2-CDG\",\"authors\":\"Patrica L. Hall, Kris Liedke, Coleman Turgeon, Amy White, Gesele Bentz Pino, Dawn Peck, April Studinski, Dimitar Gavrilov, Silvia Tortorelli, Devin Oglesbee, Dietrich Matern, Kimiyo Raymond, Matthew J. Schultz\",\"doi\":\"10.1016/j.ymgme.2024.108564\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<div><p>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 <em>PMM2</em> genotypes of uncertain significance.</p></div>\",\"PeriodicalId\":18937,\"journal\":{\"name\":\"Molecular genetics and metabolism\",\"volume\":\"143 1\",\"pages\":\"Article 108564\"},\"PeriodicalIF\":3.7000,\"publicationDate\":\"2024-09-01\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"https://www.sciencedirect.com/science/article/pii/S1096719224004487/pdfft?md5=488429242a92f1e3b46725149e4da88c&pid=1-s2.0-S1096719224004487-main.pdf\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Molecular genetics and metabolism\",\"FirstCategoryId\":\"99\",\"ListUrlMain\":\"https://www.sciencedirect.com/science/article/pii/S1096719224004487\",\"RegionNum\":2,\"RegionCategory\":\"生物学\",\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"Q2\",\"JCRName\":\"ENDOCRINOLOGY & METABOLISM\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Molecular genetics and metabolism","FirstCategoryId":"99","ListUrlMain":"https://www.sciencedirect.com/science/article/pii/S1096719224004487","RegionNum":2,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q2","JCRName":"ENDOCRINOLOGY & METABOLISM","Score":null,"Total":0}
Sensitivity of transferrin isoform analysis for PMM2-CDG
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.
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.
求助内容：
应助结果提醒方式：
京公网安备 11010802042870号
