Cystic fibrosis: S158N (605G --> A) is a rare genetic variant found in coupling with deltaF508

Karen Hicks; Wendy Beadling; Antony E Shrimpton

doi:10.1089/109065703321560985

Cystic fibrosis: S158N (605G --> A) is a rare genetic variant found in coupling with deltaF508

Genet Test. 2003 Spring;7(1):73-6. doi: 10.1089/109065703321560985.

Authors

Karen Hicks¹, Wendy Beadling, Antony E Shrimpton

Affiliation

¹ Department of Clinical Pathology, SUNY Upstate Medical University, Syracuse, NY 13210, USA.

PMID: 12820707
DOI: 10.1089/109065703321560985

Abstract

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.

MeSH terms

Alleles
Base Sequence
Chromosomes, Human, Pair 7 / genetics
Cystic Fibrosis / genetics*
Cystic Fibrosis Transmembrane Conductance Regulator / genetics*
Female
Genetic Carrier Screening
Genetic Counseling
Genetic Linkage / genetics*
Humans
Male
Pedigree
Point Mutation / genetics*
Sequence Deletion / genetics*

Substances

CFTR protein, human
Cystic Fibrosis Transmembrane Conductance Regulator

Associated data

OMIM/219700
OMIM/602421