Referenced in: none

Automatically associated channels: Kir2.3

Title: Diagnostic testing by CFTR gene mutation analysis in a large group of Hispanics: novel mutations and assessment of a population-specific mutation spectrum.

Authors: Iris Schrijver, Sudha Ramalingam, Ramalingam Sankaran, Steve Swanson, Charles L M Dunlop, Steven Keiles, Richard B Moss, John Oehlert, Phyllis Gardner, E Robert Wassman, Anja Kammesheidt

Journal, date & volume: , 2005 May , 7, 289-99

PubMed link: http://www.ncbi.nlm.nih.gov/pubmed/15858154

Abstract
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.