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Volume 13
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10.3390/genes13020382
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Review

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

by
Chengcheng Li
1,
Gabe Haller
1,2,3 and
Conrad C. Weihl
1,*
1
Department of Neurology, Washington University School of Medicine, Saint Louis, MO 63110, USA
2
Department of Neurological Surgery, Washington University School of Medicine, Saint Louis, MO 63110, USA
3
Department of Genetics, Washington University School of Medicine, Saint Louis, MO 63110, USA
*
Author to whom correspondence should be addressed.
Genes 2022, 13(2), 382; https://doi.org/10.3390/genes13020382
Submission received: 16 January 2022 / Revised: 11 February 2022 / Accepted: 16 February 2022 / Published: 19 February 2022
(This article belongs to the Special Issue Genetics of Muscular Disorders)
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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.
Keywords: LGMD; sarcoglycan; high-throughput screening; deep mutational scanning LGMD; sarcoglycan; high-throughput screening; deep mutational scanning

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MDPI and ACS Style

Li, C.; Haller, G.; Weihl, C.C. Current and Future Approaches to Classify VUSs in LGMD-Related Genes. Genes 2022, 13, 382. https://doi.org/10.3390/genes13020382

AMA Style

Li C, Haller G, Weihl CC. Current and Future Approaches to Classify VUSs in LGMD-Related Genes. Genes. 2022; 13(2):382. https://doi.org/10.3390/genes13020382

Chicago/Turabian Style

Li, Chengcheng, Gabe Haller, and Conrad C. Weihl. 2022. "Current and Future Approaches to Classify VUSs in LGMD-Related Genes" Genes 13, no. 2: 382. https://doi.org/10.3390/genes13020382

APA Style

Li, C., Haller, G., & Weihl, C. C. (2022). Current and Future Approaches to Classify VUSs in LGMD-Related Genes. Genes, 13(2), 382. https://doi.org/10.3390/genes13020382

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