PURPOSE: 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. CONCLUSION: These results demonstrate the successful implementation of MALDI-TOF mass spectrometry in CF clinical testing, and establish 3199del6 as a disease-causing CF mutation.
PURPOSE: 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. CONCLUSION: 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: H Duzkale; J Shen; H McLaughlin; A Alfares; M A Kelly; T J Pugh; B H Funke; H L Rehm; M S Lebo Journal: Clin Genet Date: 2013-11 Impact factor: 4.438
Authors: Michael S Watson; Garry R Cutting; Robert J Desnick; Deborah A Driscoll; Katherine Klinger; Michael Mennuti; Glenn E Palomaki; Bradley W Popovich; Victoria M Pratt; Elizabeth M Rohlfs; Charles M Strom; C Sue Richards; David R Witt; Wayne W Grody Journal: Genet Med Date: 2004 Sep-Oct Impact factor: 8.822