title: Array comparative genomic hybridization identifies a heterozygous deletion of exon 3 of the RYR2 gene.
abstract: BACKGROUND
  Catecholaminergic polymorphic ventricular tachycardia (CPVT) is a heritable cardiac disorder characterized by life-threatening ventricular tachycardia caused by exercise or acute emotional stress. The standard diagnostic screening involves Sanger-based sequencing of 45 of the 105 translated exons of the RYR2 gene, and copy number changes of a limited number of exons that are detected using multiplex ligation-dependent probe amplification (MLPA).
  
  
  METHODS
  In the current study, a previously validated bespoke array comparative genomic hybridization (aCGH) technique was used to detect copy number changes in the RYR2 gene in a 43-year-old woman clinically diagnosed with CPVT.
  
  
  RESULTS
  The CGH array detected a 1.1 kb deletion encompassing exon 3 of the RYR2 gene. This is the first report using the aCGH technique to screen for mutations causing CPVT.
  
  
  CONCLUSIONS
  The aCGH method offers significant advantages over MLPA in genetic screening for heritable cardiac disorders.
authors.affiliation: Diagnostic Genetics, LabPLUS, Auckland City Hospital , PO Box 110031, Auckland 1142 , New Zealand.
authors.forename: Ivone U S
authors.initials: IU
authors.lastname: Leong
authors.forename: Jennifer
authors.initials: J
authors.lastname: Sucich
authors.forename: Debra O
authors.initials: DO
authors.lastname: Prosser
authors.forename: Jonathan R
authors.initials: JR
authors.lastname: Skinner
authors.forename: Jackie R
authors.initials: JR
authors.lastname: Crawford
authors.forename: Colleen
authors.initials: C
authors.lastname: Higgins
authors.forename: Donald R
authors.initials: DR
authors.lastname: Love
mesh_terms: D000328:Adult; D001483:Base Sequence; D055028:Comparative Genomic Hybridization; D005091:Exons / Q000235:genetics*; D005260:Female; D005819:Genetic Markers; D006579:Heterozygote; D006801:Humans; D008297:Male; D019837:Ryanodine Receptor Calcium Release Channel / Q000235:genetics*; D017384:Sequence Deletion; D017180:Tachycardia, Ventricular / Q000175:diagnosis / Q000235:genetics*; D000098850:Polymorphic Catecholaminergic Ventricular Tachycardia
chemical_list: D005819:Genetic Markers; D019837:Ryanodine Receptor Calcium Release Channel
keywords: CPVT; RYR2; aCGH; array comparative genomic hybridization; catecholaminergic polymorphic ventricular tachycardia; ryanodine receptor 2 gene
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