The mutation was found in exon 9 of the CFTR gene in a young boy (1 year) heterozygote for [delta]F508. He was diagnosed at birth after detection of a meconial peritonite with echography at 27 SA. Direct sequencing of exon 20 revealed a C to G substitution at nucleotide position 1433 that alters the amino acid sequence from Serine to Stop codon at position 434 (S434X) in the CFTR protein. (NL#70)
Laboratoire de Biochimie B Caen, France
Submitted Phenotype Details
The S434X mutation was found in one male (2y) patient, carrying deltaF508 on the other allele, PI, meconium ileus, with positive sweat chloride. The patient has no pulmonary symptoms and was diagnosed at 2 months of age.(Mittre et al. 1999 and pers. corr. Mittre)
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The Database was last updated at Apr 25, 2011