ABCMdb

PMID: 7534040

Chillon M, Dork T, Casals T, Gimenez J, Fonknechten N, Will K, Ramos D, Nunes V, Estivill X
A novel donor splice site in intron 11 of the CFTR gene, created by mutation 1811+1.6kbA-->G, produces a new exon: high frequency in Spanish cystic fibrosis chromosomes and association with severe phenotype.
Am J Hum Genet. 1995 Mar;56(3):623-9., [PubMed]

Sentences

No. Mutations Sentence Comment

67 ABCC7 p.Gly542* To test this hypothesis, mRNA studies were performed in one Spanish CF patient (heterozygous for G542X and 3601-11G/C) and one German CF patient (heterozygous for SF508 and 3601-11lG/C). Login to comment 70 ABCC7 p.Gly542* However, an extra band was detected between exons 10 and 12 in the G542X/3601-11lG/C patient. Login to comment 76 ABCC7 p.Gly542* ABCC7 p.Gly542* In the initial cDNA analysis of the G542X/1811+1.6kbA--G patient, we detected both the 49-bp insertion and the G542X allele, while in the AF508/1811+l.6kbA-oG patient, we mainly detected the AF508 allele, since RNA from the 1811 +1.6kbA-*G allele was 5-10-fold less abundant than the AF508 allele (fig. 3). Login to comment 110 ABCC7 p.Pro205Ser Three CF patients carried mutation P205S on the other chromosome, which is associated with a mild CF phenotype and pancreatic sufficiency (Chillon et al. 1993). Login to comment 111 ABCC7 p.Asn1303Lys ABCC7 p.Gly542* ABCC7 p.Pro205Ser Three CF patients carried mutation P205S on the other chromosome, which is associated with a mild CF phenotype and pancreatic sufficiency (Chillon et al. 1993). Login to comment 112 ABCC7 p.Asn1303Lys ABCC7 p.Gly542* Seventeen other patients were carriers of a known severe CF mutation (AI507, AF508, 1609delCA, G542X, K71OX, or N1303K) on the other chromosome. Login to comment 115 ABCC7 p.Asn1303Lys B, Phosphoimager analysis of labeled RT-PCR products after separation in a 6% polyacrylamide gel. Left, Typical AF508 heterozygous profile from a patient AF508/ N1303K. Login to comment 116 ABCC7 p.Asn1303Lys B, Phosphoimager analysis of labeled RT-PCR products after separation in a 6% polyacrylamide gel. Left, Typical AF508 heterozygous profile from a patient AF508/ N1303K. Login to comment 124 ABCC7 p.Asn1303Lys ABCC7 p.Gly542* ABCC7 p.Lys710* of patients ...................... 17 3 82 Age (years) ...................... 9.1 &#b1; 5.8 12 &#b1; 5.3 7.8 &#b1; 5.2 Age at diagnosis (years) ............... 2.8 &#b1; 4.0 7.1 &#b1; 5.2 2.2 &#b1; 2.8 Sweat chloride (mmolIL) ............. 98 &#b1; 11.7 100 &#b1; 10 104.4 &#b1; 15.7 FEV1 (% predicted)d .................... 65 &#b1; 24.8 70.8 &#b1; 12.8 74.8 &#b1; 23.1 Shwachman score' ...................... 74.5 &#b1; 12.3 86.6 &#b1; 2.3 83.1 &#b1; 11.8 Pancreatic sufficiency ................... 0/19 (0%) 3/3 (100%) 1/82 (1.2%) a A1507, AF508, 1609delCA, G542X, K710X, and N1303K. Login to comment 125 ABCC7 p.Asn1303Lys ABCC7 p.Gly542* ABCC7 p.Pro205Ser ABCC7 p.Lys710* of patients ...................... 17 3 82 Age (years) ...................... 9.1 ± 5.8 12 ± 5.3 7.8 ± 5.2 Age at diagnosis (years) ............... 2.8 ± 4.0 7.1 ± 5.2 2.2 ± 2.8 Sweat chloride (mmolIL) ............. 98 ± 11.7 100 ± 10 104.4 ± 15.7 FEV1 (% predicted)d .................... 65 ± 24.8 70.8 ± 12.8 74.8 ± 23.1 Shwachman score' ...................... 74.5 ± 12.3 86.6 ± 2.3 83.1 ± 11.8 Pancreatic sufficiency ................... 0/19 (0%) 3/3 (100%) 1/82 (1.2%) a A1507, AF508, 1609delCA, G542X, K710X, and N1303K. Login to comment 126 ABCC7 p.Pro205Ser b Mutation P205S has been described as associated with a mild CF phenotype and pancreatic sufficiency. Login to comment 149 ABCC7 p.Gly542* We could detect the two mRNA species in the G542X/1811 +1.6kbA-+G patient, since both mutations lead to a reduction in levels of mRNA. Login to comment 150 ABCC7 p.Gly542* We could detect the two mRNA species in the G542X/1811 +1.6kbA-+G patient, since both mutations lead to a reduction in levels of mRNA. Login to comment 157 ABCC7 p.Glu92* Although it is not usual that the inclusion of an exon carrying a premature termination codon is the cause of the disease, this has also been found for other CF mutations (3849+10kbC-+T [Highsmith et al. 1994] and E92X [Will et al. 1994]). Login to comment 158 ABCC7 p.Glu92* Although it is not usual that the inclusion of an exon carrying a premature termination codon is the cause of the disease, this has also been found for other CF mutations (3849+10kbC-+T [Highsmith et al. 1994] and E92X [Will et al. 1994]). Login to comment