ABCMdb

PMID: 10477439

Castaldo G, Fuccio A, Cazeneuve C, Picci L, Salvatore D, Scarpa M, Goossens M, Salvatore F
A noval nonsense mutation (Y849X) in the CFTR gene of a CF patient from southern Italy.
Hum Mutat. 1999 Sep 19;14(3):272., [PubMed]

Sentences

No. Mutations Sentence Comment

0 ABCC7 p.Tyr849* HUMAN MUTATION Mutation and Polymorphism Report #69 (1999) Online Mutation and Polymorphism Report Title : A novel nonsense mutation (Y849X) in the CFTR gene of a CF patient from Southern Italy Authors: Giuseppe Castaldo (1,2), Antonella Fuccio (1), Cécile Cazeneuve (3), Luigi Picci (4), Donatello Salvatore (5), Maurizio Scarpa (4), Michel Goossens (3), Francesco Salvatore (1) Affiliations: (1) CEINGE scarl and Dipartimento di Biochimica e Biotecnologie Mediche, Università di Napoli "Federico II", Naples Italy; (2) Facoltà di Scienze, Università del Molise, Isernia, Italy; (3) Laboratoire de Biochimie et de Génétique Moléculaire, INSERM U468, Hopital Henri-Mondor, Crétil, France; (4) Dipartimento di Pediatria, Università di Padova, Padua, Italy; (5) Divisione di Pediatria, Ospedale Civile, Potenza, Italy. Login to comment 5 ABCC7 p.Tyr849* e.g., R108W Y849X Mutation / polymorphism type: Missense, deletion, splice, etc. nonsense Polymorphism frequency: e.g., 40/60 C/T Detection method: DGGE, etc. DGGE (Costes et al. 1993) followed by double strand sequence Detection conditions sequence of primers: see Costes et al. 1993 PCR conditions: see Costes et al. 1993 electrophoresis: see Costes et al. 1993 Diagnosis method developed: ASO, etc. ASO dot-blot (see Castaldo et al. 1996a and Castaldo et al. 1999). Login to comment 24 ABCC7 p.Tyr849* Other: 10.Present in HGMD listing: (http://www.cf.ac.uk/uwcm/mg/hgmd0.html) Yes No Comments The Y849X nonsense mutation arising from the point mutation g2679C>A in exon 14a gives rise to an unstable mRNA. Login to comment 25 ABCC7 p.Arg553* Therefore it should be considered a severe disease-causing mutation, although CF patients homozygous for another nonsense mutation (i.e. R553X) have been described showing a mild phenotype (see Castaldo et al., 1996b). Login to comment 28 ABCC7 p.Tyr849* The haplotype based on six polymorphisms associated to the Y849X mutation is one of the most frequent among normal Caucasian chromosomes (Morral et al., 1996). Login to comment