Use of MALDI-TOF mass spectrometry in a 51-mutation test for cystic fibrosis: evidence that 3199del6 is a disease-causing mutation.
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.
Buyse
Inge M
IM
Medical Genetics Laboratories, Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas 77030, USA.
McCarthy
Sarah E
SE
Lurix
Paul
P
Pace
Robert P
RP
Vo
David
D
Bartlett
George A
GA
Schmitt
Eric S
ES
Ward
Patricia A
PA
Oermann
Christopher
C
Eng
Christine M
CM
Roa
Benjamin B
BB
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*
C505032:CFTR protein, human; D019005:Cystic Fibrosis Transmembrane Conductance Regulator