Development of a clinically validated in vitro functional assay to assess pathogenicity of novel GAA variants in patients with Pompe disease identified via newborn screening

Development of a clinically validated in vitro functional assay to assess pathogenicity of novel GAA variants in patients with Pompe disease identified via newborn screening

Purpose: The addition of Pompe disease (Glycogen Storage Disease Type II) to the Recommended Uniform Screening Panel in the United States has led to an increase in the number of variants of uncertain significance (VUS) and novel variants identified in the GAA gene. This presents a diagnostic challen...

Full description

Bibliographic Details
Main Authors: Shelly Goomber, Erin Huggins, Catherine W. Rehder, Jennifer L. Cohen, Deeksha S. Bali, Priya S. Kishnani
Format: Article
Language:English
Published: Frontiers Media S.A. 2022-09-01
Series:Frontiers in Genetics
Subjects:
pompe disease
newborn screening
variant classification
functional studies
in vitro assay
lysosomal storage disease (LSD)
Online Access:https://www.frontiersin.org/articles/10.3389/fgene.2022.1001154/full

Internet

https://www.frontiersin.org/articles/10.3389/fgene.2022.1001154/full

Similar Items