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JMD 2005, Vol. 7, No. 2
Copyright © 2005 American Society for Investigative Pathology & Association for Molecular Pathology

Diagnostic Testing by CFTR Gene Mutation Analysis in a Large Group of Hispanics

Novel Mutations and Assessment of a Population-Specific Mutation Spectrum

Iris Schrijver^*, Sudha Ramalingam, Ramalingam Sankaran, Steve Swanson, Charles L.M. Dunlop, Steven Keiles, Richard B. Moss, John Oehlert^¶, Phyllis Gardner, E. Robert Wassman and Anja Kammesheidt

From the Departments of Pathology, * Medicine, and Pediatrics, Stanford University Medical Center, Stanford; Ambry Genetics Corporation, Irvine; and FRI Solutions Incorporated, ^¶ Half Moon Bay, California

Characterization of CFTR mutations in the U.S. Hispanic population is vital to early diagnosis, genetic counseling, patient-specific treatment, and the understanding of cystic fibrosis (CF) pathogenesis. The mutation spectrum in Hispanics, however, remains poorly defined. A group of 257 self-identified Hispanics with clinical manifestations consistent with CF were studied by temporal temperature gradient electrophoresis and/or DNA sequencing. A total of 183 mutations were identified, including 14 different amino acid-changing novel variants. A significant proportion (78/85) of the different mutations identified would not have been detected by the ACMG/ACOG-recommended 25-mutation screening panel. Over one third of the mutations (27/85) occurred with a relative frequency >1%, which illustrates that the identified mutations are not all rare. This is supported by a comparison with other large CFTR studies. These results underscore the disparity in mutation identification between Caucasians and Hispanics and show utility for comprehensive diagnostic CFTR mutation analysis in this population.

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