Our diagnostic laboratory is specialized in screening for rare mutations by complete analysis of the 27 exons and flanking sequences of the CFTR gene using scanning methods or, more recently, a methodology based on single condition touchdown amplification / sequencing. These analysis associated to the search for gross rearrangements allow us to identify more than 97% of mutations responsible for cystic fibrosis in Southern France, region that displays one of the highest allelic heterogeneity due to a large ethnic mixing. The detection of rare/unique mutations, whose clinical significance is unclear, imply an impossible prediction of the phenotypic consequences for the offspring.
Complete scanning of the CFTR gene allows us to identify rare/unique mutations, the clinical significance of which is unclear implying an impossible prediction of the phenotypic consequences for the offspring. So, the laboratory develops epidemiologic studies and a variety of approaches to determine if a sequence alteration is a begnin polymorphism or a disease causing mutation.
Large molecular and epidemiological data compiled since 1988 allowed us to develop a register of epidemiology-LSDB on cystic fibrosis in the Languedoc-Roussillon area.
All CF patients are registered and geographical, ethnic, clinical and molecular data are collected. This register will allow us to assess the incidence of the disease and its evolution in this Mediterranean area, to establish the spectrum of mutations in an area presenting a very large ethnic background, to determine the way in which the birth prevalence of CF has been influenced by the various public health strategies implemented in the region, to refine the phenotype-genotype correlations thanks to the molecular tool LSDB-UMD/CFTR gene. In fact, the originality of this database is to associate all sequence variation detected in a patient allowing us to assign haplotypes. This powerful tool could make it possible to explain, by the detection of complex alleles, the phenotypical differences observed among patients carrying identical genotypes.
Cystic Fibrosis informations :
MIM#219700
Diagnostic and clinical research team :
-Marie Des Georges
-Caroline Guittard
-Jean-Pierre Altiéri
-Carine Templin