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A new mutation, 3905insT, accounts for 4.8% of 1173 CF chromosomes in Switzerland and causes a severe phenotype.

Authors: Hergersberg, M  Balakrishnan, J  Bettecken, T  Chevalier-Porst, F  Bragger, C  Burger, R  Einschenk, I  Liechti-Gallati, S  Morris, M  Schorderet, D  Thonney, F  Moser, H  Malik, N 
Citation: Hergersberg M, etal., Hum Genet. 1997 Aug;100(2):220-3.
Pubmed: (View Article at PubMed) PMID:9254853

We have analysed 1173 cystic fibrosis (CF) chromosomes from Switzerland for eight mutations in the CF transmembrane conductance regulator (CFTR) gene. This permitted the identification of 88.5% of all mutations present. A novel insertion mutation in exon 20 of the CFTR gene, 3905insT, was discovered. This mutation accounted for 4.8% of CFTR gene mutations in Switzerland and has since been identified in other populations of probable Swiss descent. It is associated with a highly variable clinical phenotype but always with pancreatic insufficiency. Haplotype analysis with three intragenic microsatellites in the CFTR gene showed that the mutation is associated with a haplotype rarely identified on other CFTR alleles and, therefore, that the frequency of the mutation in Switzerland is explained by a founder effect of a relatively recent mutation event.


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CRRD Object Information
CRRD ID: 4140401
Created: 2010-08-25
Species: All species
Last Modified: 2010-08-25
Status: ACTIVE


RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.