TY - JOUR
T1 - Current and Future Approaches to Classify VUSs in LGMD-Related Genes
AU - Li, Chengcheng
AU - Haller, Gabe
AU - Weihl, Conrad C.
N1 - Publisher Copyright:
© 2022 by the authors. Licensee MDPI, Basel, Switzerland.
PY - 2022/2
Y1 - 2022/2
N2 - 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.
AB - 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.
KW - Deep mutational scanning
KW - High-throughput screening
KW - LGMD
KW - Sarcoglycan
UR - http://www.scopus.com/inward/record.url?scp=85125352810&partnerID=8YFLogxK
U2 - 10.3390/genes13020382
DO - 10.3390/genes13020382
M3 - Review article
C2 - 35205425
AN - SCOPUS:85125352810
SN - 2073-4425
VL - 13
JO - Genes
JF - Genes
IS - 2
M1 - 382
ER -