Four adult patients with the missense mutation L206W and a mild cystic fibrosis phenotype.
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Desgeorges M, Rodier M, Piot M, Demaille J, Claustres M
Four adult patients with the missense mutation L206W and a mild cystic fibrosis phenotype.
Hum Genet. 1995 Dec;96(6):717-20.
- PubMed ID
- 8522333 [ View in PubMed]
- Abstract
We report molecular and clinical analyses in four unrelated patients with cystic fibrosis (CF) with compound heterozygosity for the L206W mutation in the cystic fibrosis transmembrane conductance regulator gene (CFTR). This uncommon missense mutation (frequency less than 1% in a sample of 336 CF chromosomes from Southern France) replaces a leucine by a tryptophan residue in the middle of the third transmembrane domain of CFTR. On the basis of the clinical features presented by the four patients, we postulate that the L206W might be associated with pancreatic sufficiency and residual transmembrane transport of chloride in lung.