ABCMdb

PMID: 16283887

Epaud R, Girodon E, Corvol H, Niel F, Guigonis V, Clement A, Feldmann D, Bensman A, Ulinski T
Mild cystic fibrosis revealed by persistent hyponatremia during the French 2003 heat wave, associated with the S1455X C-terminus CFTR mutation.
Clin Genet. 2005 Dec;68(6):552-3., [PubMed]

Sentences

No. Mutations Sentence Comment

0 ABCC7 p.Ser1455* Letter to the Editor Mild cystic fibrosis revealed by persistent hyponatremia during the French 2003 heat wave, associated with the S1455X C-terminus CFTR mutation To the Editor: Cystic fibrosis (CF) - an autosomal recessive disorder with widely variable presentation - is caused by a dysfunction of the CF transmembrane conductance regulator (CFTR) protein. Login to comment 13 ABCC7 p.Ser1455* The patient was a compound heterozygote for the F508del (maternally inherited) and the S1455X mutation located in the last exon 24 (paternally inherited). Login to comment 14 ABCC7 p.Ile1027Thr The rare sequence variation 3212T>C (I1027T) (exon 17a) found in cis of F508del has already been reported. Login to comment 17 ABCC7 p.Ser1455* ABCC7 p.Ser1455* The S1455X mutation, encoding a truncated CFTR protein missing the last 26 amino acids, was originally described in the sib and the mother of a CF patient, who were compound heterozygotes for the S1455X mutation and a genomic 8.6 kb deletion removing exon 14a (3). Login to comment 19 ABCC7 p.Ser1455* A recent report documented two sisters with the [F508del] þ [S1455X] genotype and elevated sweat chloride values. Login to comment 21 ABCC7 p.Ser1455* Functional studies failed to elucidate the association of S1455X with elevated sweat chloride values (5-8). Login to comment 25 ABCC7 p.Ser1455* ABCC7 p.Glu1473* All rights reserved CLINICAL GENETICS doi: 10.1111/j.1399-0004.2005.00525.x 552 vas deferens (CBAVD) (4428insAG), apparently isolated CBAVD (E1473X and E1476X), and isolated positive sweat test (S1455X) (3, 4). Login to comment 26 ABCC7 p.Ser1455* ABCC7 p.Ser1455* Contrary to the previous S1455X-associated cases, our compound heterozygous [F508del] þ [S1455X] patient is a boy, and CBAVD-associated infertility may possibly occur. Login to comment 28 ABCC7 p.Ser1455* S1455X might not have a specific effect on CFTR function, but belong to a group of mild C-terminus CFTR truncation mutations. Login to comment 42 ABCC7 p.Ser1455* Isolated elevated sweat chloride concentrations in the presence of the rare mutation S1455X: an extremely mild form of CFTR dysfunction. Login to comment