Current and Future Approaches to Classify VUSs in LGMD-Related Genes

Research output: Contribution to journalReview articlepeer-review

Abstract

Next-generation sequencing (NGS) has revealed large numbers of genetic variants in LGMD-related genes, with most of them classified as variants of uncertain significance (VUSs). VUSs are genetic changes with unknown pathological impact and present a major challenge in genetic test interpretation and disease diagnosis. Understanding the phenotypic consequences of VUSs can provide clinical guidance regarding LGMD risk and therapy. In this review, we provide a brief overview of the subtypes of LGMD, disease diagnosis, current classification systems for investigating VUSs, and a potential deep mutational scanning approach to classify VUSs in LGMD-related genes.

Original languageEnglish
Article number382
JournalGenes
Volume13
Issue number2
DOIs
StatePublished - Feb 2022

Keywords

  • Deep mutational scanning
  • High-throughput screening
  • LGMD
  • Sarcoglycan

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