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

Genetics in Medicine

Volumn 17, Issue 12, 2015, Pages 1002-1006

  De Castro, Mauricio ^a   Johnston, Jennifer ^a   Biesecker, Leslie ^a  

^a NATIONAL HUMAN GENOME RESEARCH INSTITUTE   (United States)

Author keywords

allele frequency; McArdle disease; next generation sequencing; prevalence; PYGM

Indexed keywords

ARTICLE; CAUCASIAN; COHORT ANALYSIS; CONTROLLED STUDY; EXOME; GENE FREQUENCY; GENE MUTATION; GENETIC ANALYSIS; GENETIC VARIABILITY; GLYCOGEN STORAGE DISEASE TYPE 5; HUMAN; MAJOR CLINICAL STUDY; NEXT GENERATION SEQUENCING; PREVALENCE; DNA SEQUENCE; GENETICS; GLYCOGEN STORAGE DISEASE TYPE V; HIGH THROUGHPUT SEQUENCING; MUTATION; PATHOPHYSIOLOGY;

EUROPEAN CONTINENTAL ANCESTRY GROUP; GENE FREQUENCY; GLYCOGEN STORAGE DISEASE TYPE V; HIGH-THROUGHPUT NUCLEOTIDE SEQUENCING; HUMANS; MUTATION; PREVALENCE; SEQUENCE ANALYSIS, DNA;

EID: 84949208967     PISSN: 10983600     EISSN: 15300366     Source Type: Journal    
DOI: 10.1038/gim.2015.9     Document Type: Article

References (20)

1. El-Schahawi M, Tsujino S, Shanske S, DiMauro S. Diagnosis of McArdle's disease by molecular genetic analysis of blood. Neurology 1996;47:579-580.
2. Wolfe GI, Baker NS, Haller RG, Burns DK, Barohn RJ. McArdle's disease presenting with asymmetric, late-onset arm weakness. Muscle Nerve 2000;23:641-645.
3. DiMauro S, Hartlage PL. Fatal infantile form of muscle phosphorylase deficiency. Neurology 1978;28:1124-1129.
4. Garciá-Consuegra I, Rubio JC, Nogales-Gadea G, et al. Novel mutations in patients with McArdle disease by analysis of skeletal muscle mRNA. J Med Genet 2009;46:198-202.
5. de Luna N, Brull A, Lucia A, et al. PYGM expression analysis in white blood cells: a complementary tool for diagnosing McArdle disease Neuromuscul Disord 2014;24:1079-1086.
6. Haller RG. Treatment of McArdle disease. Arch Neurol 2000;57:923-924.
7. Lucia A, Ruiz JR, Santalla A, et al. Genotypic and phenotypic features of McArdle disease: insights from the Spanish national registry. J Neurol Neurosurg Psychiatry 2012;83:322-328.
8. van Alfen N, de Bie HJ, Wevers RA, Arenas J, van Engelen BG. The prevalence and genetic characteristics of McArdle's disease in the Netherlands. Neuromuscul Disord 2002;12:718-783.
9. NISC Comparative Sequencing Program; Biesecker LG, Mullikin JC, Facio FM, et al. The ClinSeq Project: piloting large-scale genome sequencing for research in genomic medicine. Genome Res 2009;19:1665-1674.
10. Johnston JJ, Rubinstein WS, Facio FM, et al. Secondary variants in individuals undergoing exome sequencing: screening of 572 individuals identifies high-penetrance mutations in cancer-susceptibility genes. Am J Hum Genet 2012;91:97-108.
11. Teer JK, Green ED, Mullikin JC, Biesecker LG. VarSifter: visualizing and analyzing exome-scale sequence variation data on a desktop computer. Bioinformatics 2012;28:599-600.
12. Ng PC, Henikoff S. Predicting deleterious amino acid substitutions. Genome Res 2001;11:863-874.
13. Kircher M, Witten DM, Jain P, O'Roak BJ, Cooper GM, Shendure J. A general framework for estimating the relative pathogenicity of human genetic variants. Nat Genet 2014;46:310-315.
14. Clopper CJ, Pearson ES. The use of confidence or fiducial limits illustrated in the case of the binomial. Biometrika 1934;26:404-413.
15. Nogales-Gadea G, Rubio JC, Fernandez-Cadenas I, et al. Expression of the muscle glycogen phosphorylase gene in patients with McArdle disease: the role of nonsense-mediated mRNA decay. Hum Mutat 2008;29:277-283.
16. Birch KE, Quinlivan RM, Morris GE. Cell models for McArdle disease and aminoglycoside-induced read-through of a premature termination codon. Neuromuscul Disord 2013;23:43-51.
17. Beutler E, Gelbart T. Estimating the prevalence of pyruvate kinase deficiency from the gene frequency in the general white population. Blood 2000;95: 3585-3588.
18. Tsujino S, Shanske S, DiMauro S. Molecular genetic heterogeneity of myophosphorylase deficiency (McArdle's disease). N Engl J Med 1993;329:241-245.
19. Wolf B, Norrgard K, Pomponio RJ, et al. Profound biotinidase deficiency in two asymptomatic adults. Am J Med Genet 1997;73:5-9.
20. Biesecker LG. Hypothesis-generating research and predictive medicine. Genome Res 2013;23:1051-1053.