ABCMdb

PMID: 1283149

Dork T, Kalin N, Stuhrmann M, Schmidtke J, Tummler B
A termination mutation (2143delT) in the CFTR gene of German cystic fibrosis patients.
Hum Genet. 1992 Nov;90(3):279-84., [PubMed]

Sentences

No. Mutations Sentence Comment

51 ABCC7 p.Gly551Asp 1 2 3 4 5 6 CFTR mutation genotype AF508/2143delT G551D/ 2143delT 281 Sex Female Female Male Male Male Male Current age (years, months) 10months 9 years, 16years, 16years, 22 years, 23 years, 10months 3 months 3 months 6 months 5 months Age at diagnosis 9 months 68 months 9 months 2 months 4 months 74 months Sweat test chloride concentrations: range (mean) (mmol/1)a 70 70-90 (77) 90-110 (100) 87-100 (93) 70-125 (85) 80-100 (90) Pancreatic statusb PI PI PI PI PI PI Meconium ileus No No No No No No Hepatobiliary disease No No Light No Severe chol No cholestasis estasis, splenomegaly No No No No No Yes No Yes Yes Yes Diabetes mellitus Chronic colonization of airways with Pseudomonas aerugiosa Age of acquisition of P. aeruginosa No No Current clinical status (March 1992) Shwachman score 85 Chrispin-Norman score of chest radiograph Lung function parametersc FVC (% predicted) FEV1 (% predicted) Arterial oxygen tension (Torr) Height percentile Height percentile 2 Weight predicted for height (%) 8 years, 6 years, <14 years 16years 7months 6months 90 80 70 45 65 8 17 19 26 13 83 81 69 31 64 90 67 47 19 32 92 92 67 65 72 30 6d 2~ 73 75 10 2 2 3 25 88 87 92 69 75 a Pilocarpine iontophoresis sweat tests (Gibson and Cooke 1959) b PI, pancreas insufficient c Average value of the forced expiratory volume in 1s (FEV1) and of the forced vital capacity (FVC) of the last three pulmonary function tests excluding episodes of acute airways infection d Delay of puberty in both patients, stage II according to Tanner J44-GATI'-TUB9-M470V-T854T-TUB 18-TUB20), which is also typical for the common deletion AF508. Login to comment 52 ABCC7 p.Gly551Asp Five out of the 6 identified patients with the 2143delT mutation carry the major mutation AF508 on the other chromosome, the sixth patient being compound heterozygous for G551D (Cutting et al. 1990) and 2143delT. Login to comment 65 ABCC7 p.Gly551Asp The other adult of similar age who is compound heterozygous for G551D and 2143delT, however, is only moderately ill. Lung function and working capacity were normal until the age of 20. Login to comment 70 ABCC7 p.Leu671* As a result, the leucine codon 671 is changed into a termination codon (L671X) and, because of the frameshift, further nonsense codons are created downstream. Login to comment 86 ABCC7 p.Asn1303Lys ABCC7 p.Gly542* All six identified alleles carry the typical "risk haplotype" for CF that is also associated with other common severe mutations, such as zXF508, N1303K, G542X or 621 + 1G-T (Kerem et al. 1989, 1990: Osborne et al. 1991: Zielenski et al. 1991b). Login to comment