ABCMdb

PMID: 12820707

Hicks K, Beadling W, Shrimpton AE
Cystic fibrosis: S158N (605G --> A) is a rare genetic variant found in coupling with deltaF508.
Genet Test. 2003 Spring;7(1):73-6., [PubMed]

Sentences

No. Mutations Sentence Comment

1 ABCC7 p.Ser158Asn Cystic Fibrosis: S158N (605G R A) Is a Rare Genetic Variant Found in Coupling with DF508 KAREN HICKS, WENDY BEADLING, and ANTONY E. SHRIMPTON ABSTRACT A single nucleotide change at codon 158 in exon 4 of the CFTR gene ABCC7 was detected in an asymptomatic individual who carried DF508 and had a family history of cystic fibrosis (CF). Login to comment 2 ABCC7 p.Ser158Asn Further study, using linkage, revealed that S158N was coupled with DF508, both having been inherited from the same parent. Login to comment 16 ABCC7 p.Tyr122* Novel fragments with sizes not compatible with 621 1 1G R T, Y122X, or any other previously described CF mutation in this exon (www.genet.sickkids. Login to comment 22 ABCC7 p.Ser158Asn This transition of a G to A occurs at nucleotide 605; the second nucleotide of codon 158, is predicted to result in the substitution of an asparagine (AAT) for a serine (AGT), hence the designation S158N. Login to comment 23 ABCC7 p.Ser158Asn Follow-up testing on the patient`s parents and affected sibling surprisingly showed that S158N and DF508 were in coupling, having been inherited from the same parent (Fig. 4). Login to comment 27 ABCC7 p.Arg117His ABCC7 p.Arg117His This was especially true because, although the patient was asymptomatic, mutations in exon 4 can be associated with mild CF (e.g., R117H in cis with IVS8-5T) or can even be asymptomatic (e.g., R117H in cis with IVS8-7T or 9T) when seen as a compound heterozygote with DF508 (Kieswetter et al., 1993). Login to comment 29 ABCC7 p.Ser158Asn To our surprise, we found that the new mutation, S158N, was coupled with DF508. Login to comment 31 ABCC7 p.Ser158Asn Thus, we describe S158N as a rare genetic variant. Login to comment 40 ABCC7 p.Ser158Asn Serine to asparagineat codon158: S158N (605G R A). Login to comment 42 ABCC7 p.Ser158Asn CF: S158N (605G R A). Login to comment 47 ABCC7 p.Arg117His The example of R117H and IVS8-polyT has already been discussed. Login to comment 48 ABCC7 p.Ser158Asn Additional studies will be needed to determine whether S158N is such a modifying mutation, a primary pathologic mutation, or a benign variant. Login to comment 49 ABCC7 p.Ser158Asn If the S158N/DF508 genotype had first been detected in the CF-affected child, rather than as in this case, in an unaffected sibling, how often would a family study to determine linkage have been initiated? Login to comment