ABCMdb

PMID: 7505694

Chillon M, Casals T, Nunes V, Gimenez J, Perez Ruiz E, Estivill X
Identification of a new missense mutation (P205S) in the first transmembrane domain of the CFTR gene associated with a mild cystic fibrosis phenotype.
Hum Mol Genet. 1993 Oct;2(10):1741-2., [PubMed]

Sentences

No. Mutations Sentence Comment

1 ABCC7 p.Pro205Ser 10 -1742 Identification of a new missense mutation (P205S) in the first transmembrane domain of the CFTR gene associated with a mild cystic fibrosis phenotype Miguel Chilldn, Teresa Casals, Virginia Nunes, Javier Gimenez, Estela Perez Ruiz1 and Xavier Estivill* Molecular Genetics Department Cancer Research Institute, Hospital Duran i Reynals, Autovte de Castefldefete Km. 2.7, L'Hospttalet de Uobregat, 08907 Barcelona and 1 Servtao de Neumotogla infantil, Hospital Matemo infants, Malaga, Spain Received June 11, "1993; Revised and Accepted July 26, 1993 Since the cloning of the CFTR gene in 1989 more than 300 cystic fibrosis (CF) mutations have been identified (ref. Login to comment 7 ABCC7 p.Pro205Ser We report here, a new missense mutation (P205S) in the first transmembrane domain of the CFTR gene, which is associated with a mild CF phenotype, pancreatic sufficiency and without gastrointestinal symptoms. Login to comment 8 ABCC7 p.Pro205Ser Mutation P205S was identified, in one patient, in exon 6a, after SSCP analysis of 20 exons of theCT77?gene (1-7, 10-14a, 15-16, and 17b-21) in a panel of 40 unrelated Spanish CF patients. Login to comment 9 ABCC7 p.Pro205Ser Further association of P205S with CFTR microsatellites (4) and screening in a large sample of Spanish CF chromosomes were performed. Login to comment 20 ABCC7 p.Pro205Ser Direct sequencing of the sample, using primers 6ai-5 and 6ai-3, showed a C to T substitution at nucleotide 745 that replaces serine with proline at codon 205 (mutation P205S) (Figure 1). Login to comment 22 ABCC7 p.Pro205Ser P205S does not affect any restriction enzyme site and it was found associated with haplotype 16-44-13 (TVS8CA-IVS17BTA-IVS17BCA) (4). Login to comment 23 ABCC7 p.Pro205Ser For a rapid screening of the mutation, we designed a mutagenesis primer (6) E6XD1 5'-TGGCACATTTCGTGTGAATCGC-3', which creates a Xmnl site if the change C to T, that leads to P205S, is present. Login to comment 24 ABCC7 p.Pro205Ser Screening of mutation P205S in our sample of CF chromosomes was partially based on its association with the microsatellite haplotype 16-44-13. Login to comment 26 ABCC7 p.Pro205Ser A total of three independent P205S alleles were found in the sample analysed (3/950) with a final estimated frequency of 0.3%. Login to comment 27 ABCC7 p.Pro205Ser Clinical data (Table 1) were available for four CF patients carrying mutation P205S (3 were from the same family). Login to comment 34 ABCC7 p.Pro205Ser Clinical presentations of patients carrying P205S suggest its association with a mild CF phenotype, with pancreatic suffiency and without gastrointestinal symptoms. Login to comment 37 ABCC7 p.Pro205Ser Clinical and laboratory features of individuals with P205S Mutation in other chromosome Current age Age at diagnosis Sex Sweat chloride mEq/1. Login to comment