Cystic fibrosis: S158N (605G --> A) is a rare genetic variant found in coupling with deltaF508.
A single nucleotide change at codon 158 in exon 4 of the CFTR gene ABCC7 was detected in an asymptomatic individual who carried deltaF508 and had a family history of cystic fibrosis (CF). Further study, using linkage, revealed that S158N was coupled with deltaF508, both having been inherited from the same parent. The clinical implications of double mutations in the same allele are discussed.
Hicks
Karen
K
Department of Clinical Pathology, SUNY Upstate Medical University, Syracuse, NY 13210, USA.
Beadling
Wendy
W
Shrimpton
Antony E
AE
D000483:Alleles; D001483:Base Sequence; D002897:Chromosomes, Human, Pair 7 / Q000235:genetics; D003550:Cystic Fibrosis / Q000235:genetics*; D019005:Cystic Fibrosis Transmembrane Conductance Regulator / Q000235:genetics*; D005260:Female; D006580:Genetic Carrier Screening; D005817:Genetic Counseling; D008040:Genetic Linkage / Q000235:genetics*; D006801:Humans; D008297:Male; D010375:Pedigree; D017354:Point Mutation / Q000235:genetics*; D017384:Sequence Deletion / Q000235:genetics*
C505032:CFTR protein, human; D019005:Cystic Fibrosis Transmembrane Conductance Regulator