Sensitivity of whole exome sequencing in detecting infantile- and late-onset Pompe disease

Article ID	Journal	Published Year	Pages	File Type
8343611	Molecular Genetics and Metabolism	2017	32 Pages	PDF

Abstract

These results demonstrate that WES may fail to diagnose Pompe disease. Clinicians need to be aware of limitations of WES, and consider tests specific to Pompe disease when WES does not provide a diagnosis in patients with proximal myopathy, progressive respiratory failure or other subtle symptoms.

Keywords

SNV Burrows-Wheeler aligner BWA CCDS LGMD HGMD CLIA Infantile-onset Pompe disease IOPD WES NGS WGS GAA LOPD Clinical Laboratory Improvement Amendments Late-onset Pompe disease Pompe disease Next-generation sequencing Whole-exome sequencing Whole-genome sequencing limb girdle muscular dystrophy Limb-girdle muscular dystrophy Glycogen storage disease type II Human Gene Mutation Database Creatine kinase CaP guanine-cytosine single nucleotide variant

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Sensitivity of whole exome sequencing in detecting infantile- and late-onset Pompe disease

Authors

Mari Mori, Gloria Haskell, Zoheb Kazi, Xiaolin Zhu, Stephanie M. DeArmey, Jennifer L. Goldstein, Deeksha Bali, Catherine Rehder, Elizabeth T. Cirulli, Priya S. Kishnani,