ABCMdb

PMID: 11295849

Feldmann D, Laroze F, Troadec C, Clement A, Tournier G, Couderc R
A novel nonsense mutation (Q1291X) in exon 20 of CFTR (ABCC7) gene.
Hum Mutat. 2001 Apr;17(4):356., [PubMed]

Sentences

No. Mutations Sentence Comment

0 ABCC7 p.Gln1291* ABCC7 p.Gln1291* HUMAN MUTATION Mutation and Polymorphism Report #234 (2001) Online Mutation and Polymorphism Report Authors: D. Feldmann, F. Laroze, C. Troadec, A. Clement, G. Tournier, and R. Couderc Affiliations: Laboratoire de Biochimie, Service de Pneumologie pédiatrique, Hopital A. Trousseau, APHP, Paris, France Corresponding Author Address and E-mail: D. Feldmann, Laboratoire de Biochimie, Hopital A. Trousseau, 26 av. du Dr A.Netter, 75571 Paris cedex 12, France; E-mail: dfeldman@infobiogen.fr Title : A novel nonsense mutation (Q1291X) in exon 20 of CFTR (ABCC7) gene Keywords: CFTR; ABCC7; Cystic Fibrosis; CF; Q1291X Species: Human Change is: Mutation Gene/Locus Name: Cystic Fibrosis Transmembrane Conductance Regulator Symbol: CFTR Genbank accession number: M551281 OMIM accession number: 602421 Locus specific database: http://www.genet.sickkids.on.ca/cftr Chromosomal location: 7q31.2 Inheritance: Germline; recessive Mutation / polymorphism name Nucleotide change-Systematic name: c4003C>T Amino acid change-Trivial name: Q1291X Mutation / polymorphism type: nonsense Polymorphism frequency: Detection method: DGGE followed by automatic sequencing Detection conditions: Exon 20 DGGE was performed using primers and conditions previously described (Fanen et al. 1992) Direct sequencing was performed using ABI Prism Big Dye dideoxy chain terminator Cycle sequencing kit. Login to comment 13 ABCC7 p.Gln1291* Mutation 4003C>T in exon 20 caused the nonsense mutation Q1291X. Login to comment 15 ABCC7 p.Gln1291* Q1291X was not identified in 250 non CF alleles and was supposed to cause CF. Login to comment 17 ABCC7 p.Gln1291* The patient with the genotype Q1291X/delF508, was diagnosed at the age of 3 years with diarrhea and abnormal sweat chloride values. Login to comment