title: Use of MALDI-TOF mass spectrometry in a 51-mutation test for cystic fibrosis: evidence that 3199del6 is a disease-causing mutation.
abstract: OBJECTIVE
  We developed a 51-mutation extended cystic fibrosis (CF) panel that incorporates the 25 previously recommended CFTR mutations, plus 26 additional mutations including 3199del6, which was associated with I148T.
  
  
  METHODS
  This assay utilizes an integrated matrix-assisted laser desorption ionization-time of flight (MALDI-TOF) mass spectrometry system.
  
  
  RESULTS
  CF testing was performed on over 5,000 individuals, including a 3-year-old Hispanic-American patient with a compound heterozygous G542X/3199del6 genotype. He is negative for I148T, or other mutations assessed by CFTR gene sequencing.
  
  
  CONCLUSIONS
  These results demonstrate the successful implementation of MALDI-TOF mass spectrometry in CF clinical testing, and establish 3199del6 as a disease-causing CF mutation.
authors.affiliation: Medical Genetics Laboratories, Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas 77030, USA.
authors.forename: Inge M
authors.initials: IM
authors.lastname: Buyse
authors.forename: Sarah E
authors.initials: SE
authors.lastname: McCarthy
authors.forename: Paul
authors.initials: P
authors.lastname: Lurix
authors.forename: Robert P
authors.initials: RP
authors.lastname: Pace
authors.forename: David
authors.initials: D
authors.lastname: Vo
authors.forename: George A
authors.initials: GA
authors.lastname: Bartlett
authors.forename: Eric S
authors.initials: ES
authors.lastname: Schmitt
authors.forename: Patricia A
authors.initials: PA
authors.lastname: Ward
authors.forename: Christopher
authors.initials: C
authors.lastname: Oermann
authors.forename: Christine M
authors.initials: CM
authors.lastname: Eng
authors.forename: Benjamin B
authors.initials: BB
authors.lastname: Roa
mesh_terms: D002675:Child, Preschool; D003550:Cystic Fibrosis / Q000235:genetics*; D019005:Cystic Fibrosis Transmembrane Conductance Regulator / Q000235:genetics; D004252:DNA Mutational Analysis; D005091:Exons; D005260:Female; D006579:Heterozygote; D006630:Hispanic or Latino / Q000235:genetics; D006801:Humans; D008297:Male; D013058:Mass Spectrometry / Q000379:methods*; D009154:Mutation; D017421:Sequence Analysis; D019032:Spectrometry, Mass, Matrix-Assisted Laser Desorption-Ionization / Q000379:methods*
chemical_list: C505032:CFTR protein, human; D019005:Cystic Fibrosis Transmembrane Conductance Regulator