✦ LIBER ✦

Four adult patients with the missense mutation L206W and a mild cystic fibrosis phenotype

✍ Scribed by Marie Desgeorges; Michel Rodier; Michel Piot; Jacques Demaille; Mireille Claustres

Publisher: Springer
Year: 1995
Tongue: English
Weight: 318 KB
Volume: 96
Category: Article
ISSN: 0340-6717
DOI: 10.1007/bf00210305

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✦ Synopsis

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.

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