Determining the prevalence of McArdle disease from gene frequency by analysis of next-generation sequencing data

Genetics in Medicine : Official Journal of the American College of Medical Genetics
Mauricio De CastroLeslie Biesecker

Abstract

McArdle disease is one of the most common glycogen storage disorders. Although the exact prevalence is not known, it has been estimated to be 1 in 100,000 patients in the United States. More than 100 mutations in PYGM have been associated with this disorder. McArdle disease has significant clinical variability: Some patients present with severe muscle pain and weakness; others have only mild, exercise-related symptoms. Next-generation sequencing data allow estimation of disease prevalence with minimal ascertainment bias. We analyzed gene frequencies in two cohorts of patients based on exome sequencing results. We categorized variants into three groups: a curated set of published mutations, variants of uncertain significance, and likely benign variants. An initial estimate based on the frequency of six common mutations predicts a disease prevalence of 1/7,650 (95% confidence interval (CI) 1/5,362-1/11,108), which greatly deviates from published estimates. A second method using the two most common mutations predicts a prevalence of 1/42,355 (95% CI 1/24,536-1/76,310) in Caucasians. These results suggest that the currently accepted prevalence of McArdle disease is an underestimate and that some of the currently considered pathogen...Continue Reading

References

Nov 1, 1978·Neurology·S DiMauro, P L Hartlage
Jul 22, 1993·The New England Journal of Medicine·S TsujinoS DiMauro
Aug 1, 1996·Neurology·M el-SchahawiS DiMauro
Jan 31, 1998·American Journal of Medical Genetics·B WolfJ Hymes
Mar 15, 2000·Muscle & Nerve·G I WolfeR J Barohn
Jul 13, 2000·Archives of Neurology·R G Haller
May 5, 2001·Genome Research·P C Ng, S Henikoff
Mar 3, 2009·Journal of Medical Genetics·I García-ConsuegraM A Martin
Jan 18, 2012·Journal of Neurology, Neurosurgery, and Psychiatry·Alejandro LuciaAntoni L Andreu
Jul 24, 2012·Neuromuscular Disorders : NMD·Kathryn E BirchGlenn E Morris
Jul 3, 2013·Genome Research·Leslie G Biesecker
Sep 23, 2014·Neuromuscular Disorders : NMD·Noemí de LunaTomàs Pinós

❮ Previous
Next ❯

Citations

Nov 1, 2015·The Canadian Journal of Cardiology·Fady Hannah-ShmouniDaniel Jacoby
May 28, 2016·Nature Reviews. Neurology·Richard Godfrey, Ros Quinlivan
Nov 1, 2016·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Ines Garcia-ConsuegraMiguel A Martín
Mar 22, 2018·Gynecological Endocrinology : the Official Journal of the International Society of Gynecological Endocrinology·Tina StoppChristian Göbl
Dec 11, 2017·Practical Neurology·James B LillekerMark Roberts
Jan 27, 2018·European Journal of Human Genetics : EJHG·Rhonda L TaylorKristen J Nowak
Jun 22, 2018·Journal of Inherited Metabolic Disease·Judit Núñez-ManchónGisela Nogales-Gadea
Nov 28, 2018·Expert Review of Neurotherapeutics·Josef Finsterer
Dec 4, 2015·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Daniel F Wallace, V Nathan Subramaniam
Nov 30, 2019·International Journal of Molecular Sciences·Francisco LlaveroJosé Luis Zugaza
Jun 15, 2016·Journal of Clinical Psychopharmacology·Stéphane TornerChristiane Mousson
Nov 13, 2015·Medicine and Science in Sports and Exercise·Gisela Nogales-GadeaAlejandro Lucia
Aug 1, 2015·Muscle & Nerve·Tomàs PinósGisela Nogales-Gadea
Aug 11, 2020·Current Opinion in Endocrinology, Diabetes, and Obesity·Stacey L Reason, Richard J Godfrey
Aug 5, 2015·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Mauricio De Castro, Leslie G Biesecker
Nov 7, 2018·Neurotherapeutics : the Journal of the American Society for Experimental NeuroTherapeutics·Mark A Tarnopolsky
Nov 12, 2018·Acta neurologica Belgica·Paulo José LorenzoniRosana Herminia Scola
Aug 5, 2015·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Gisela Nogales-GadeaAlejandro Lucia
Jun 12, 2020·European Heart Journal Supplements : Journal of the European Society of Cardiology·Lorenzo GiulianiEloisa Arbustini
Jul 24, 2021·Orphanet Journal of Rare Diseases·Judith LeyensMatthias F Seidel
Aug 11, 2021·Experimental and Therapeutic Medicine·Ju-Hyung KangHaing-Woon Baik

❮ Previous
Next ❯

Methods Mentioned

BETA
biopsy
exome sequencing

Software Mentioned

PolyPhen
ClinSeq
ClinSeq®
ESP
SIFT

Related Concepts

Trending Feeds

COVID-19

Coronaviruses encompass a large family of viruses that cause the common cold as well as more serious diseases, such as the ongoing outbreak of coronavirus disease 2019 (COVID-19; formally known as 2019-nCoV). Coronaviruses can spread from animals to humans; symptoms include fever, cough, shortness of breath, and breathing difficulties; in more severe cases, infection can lead to death. This feed covers recent research on COVID-19.

Blastomycosis

Blastomycosis fungal infections spread through inhaling Blastomyces dermatitidis spores. Discover the latest research on blastomycosis fungal infections here.

Nuclear Pore Complex in ALS/FTD

Alterations in nucleocytoplasmic transport, controlled by the nuclear pore complex, may be involved in the pathomechanism underlying multiple neurodegenerative diseases including Amyotrophic Lateral Sclerosis and Frontotemporal Dementia. Here is the latest research on the nuclear pore complex in ALS and FTD.

Applications of Molecular Barcoding

The concept of molecular barcoding is that each original DNA or RNA molecule is attached to a unique sequence barcode. Sequence reads having different barcodes represent different original molecules, while sequence reads having the same barcode are results of PCR duplication from one original molecule. Discover the latest research on molecular barcoding here.

Chronic Fatigue Syndrome

Chronic fatigue syndrome is a disease characterized by unexplained disabling fatigue; the pathology of which is incompletely understood. Discover the latest research on chronic fatigue syndrome here.

Evolution of Pluripotency

Pluripotency refers to the ability of a cell to develop into three primary germ cell layers of the embryo. This feed focuses on the mechanisms that underlie the evolution of pluripotency. Here is the latest research.

Position Effect Variegation

Position Effect Variagation occurs when a gene is inactivated due to its positioning near heterochromatic regions within a chromosome. Discover the latest research on Position Effect Variagation here.

STING Receptor Agonists

Stimulator of IFN genes (STING) are a group of transmembrane proteins that are involved in the induction of type I interferon that is important in the innate immune response. The stimulation of STING has been an active area of research in the treatment of cancer and infectious diseases. Here is the latest research on STING receptor agonists.

Microbicide

Microbicides are products that can be applied to vaginal or rectal mucosal surfaces with the goal of preventing, or at least significantly reducing, the transmission of sexually transmitted infections. Here is the latest research on microbicides.

Related Papers

Human Genetics
Irene ViéitezCarmen Navarro
Human Genetics
Irene ViétezCarmen Navarro
Human Genetics
Irene ViéitezCarmen Navarro
Human Genetics
Irene ViéitezCarmen Navarro
© 2022 Meta ULC. All rights reserved