ABCMdb

PMID: 1381442

Gasparini P, Borgo G, Mastella G, Bonizzato A, Dognini M, Pignatti PF
Nine cystic fibrosis patients homozygous for the CFTR nonsense mutation R1162X have mild or moderate lung disease.
J Med Genet. 1992 Aug;29(8):558-62., [PubMed]

Sentences

No. Mutations Sentence Comment

0 ABCC7 p.Arg1162* 5J Med Genet 1992; 29: 558-562 Nine cystic fibrosis patients homozygous for the CFTR nonsense mutation Ri 162X have mild or moderate lung disease P Gasparini, G Borgo, G Mastella, A Bonizzato, M Dognini, P F Pignatti Abstract The clinical course of nine cystic fibrosis patients homozygous for the CF gene nonsense mutation R1162X was investigated. Login to comment 25 ABCC7 p.Arg1162* All patients were analysed for the AF508 gene deletion and for the R1162X nonsense mutation. Login to comment 29 ABCC7 p.Arg1162* '7 The presence of the R1162X mutation was investigated by restriction digestion with DdeI, followed by fragment visualisation in 2% Nusieve agarose minigels. Login to comment 34 ABCC7 p.Arg1162* ABCC7 p.Arg1162* A tenth R1162X/R1162X patient was not considered because he was being treated in a different centre. Login to comment 63 ABCC7 p.Arg1162* When compared to an unselected group of AF508 homozygotes the x ray scores of the R1162X homozygotes were in the mid-low range of the reference group (fig 2). Login to comment 64 ABCC7 p.Arg1162* 559 Main clinicalfeatures of the R1162X homozygous CF patients. Login to comment 92 ABCC7 p.Arg347Pro It is noteworthy that among 16 RI 162X compound heterozygote CF patients we studied, pancreatic sufficiency was found in two 0° patients, one of whom was a compound hetero-Clz° °zygote for R347P, and the other had a still o 0o unknown mutation. Login to comment 94 ABCC7 p.Arg1162* Therefore, it seems that, with regard to ° C° °° the pancreatic involvement, the R1162X mutation, like AF508,4 acts as a severe lack of function allele, recessive to mild, partially functional 40 70 100 130 160 190 220 250 280 310 340 370 400 ones. Login to comment 95 ABCC7 p.Arg347Pro RI 162X, therefore, when combined with Age (months) a mild mutation like R347P,31 leads to pancreatic sufficiency. Login to comment 97 ABCC7 p.Arg1162* Some hypotheses could be proposed to explaine 2 Last chest x ray scores in nine R1162X homozygotes compared with 37 the minor pulmonary involvement in relation cted AF508 homozygous CF patients. Login to comment 106 ABCC7 p.Arg1162* the truncated protein created by the R1162X In this situation the best course is to match stop signal would still represent a large portion the individual patient with a cohort of CF... ~~~~~~ofthe CFTR, contailnin both transmembranepatients with mixed genotypes but homo-domains, the regulatory region, and the first geneous for age, treatment, and envirornent. Login to comment 113 ABCC7 p.Gly542* ABCC7 p.Arg1162* We investigated both the approaches pressed so that a reduced quantity of CFTR mentioned above, but for want of genotype could be produced, as recently suggested from characterised cohorts, we think that the com- studies on nasal epithelial cells of two patients parison of the R1162X homozygotes with a homozygous for the G542X nonsense muta- 'mixed genotype' cohort (fig 1), in which chest tion. Login to comment 118 ABCC7 p.Arg553* ABCC7 p.Trp1316* No CFTR mRNA was detected in bronchial and nasal epithelial cells from a CF patient, a compound heterozygote for mutations R553X and W1316X,35 with severe pancreatic insufficiency and mild pulmonary disease as reported below. Login to comment 121 ABCC7 p.Arg553* ABCC7 p.Trp1316* ABCC7 p.Gly542* ABCC7 p.Ser1255* Cutting et al'6 reported two compound heterozygotes for stop mutations S1255X/G542X and W1316X/R553X (see above), respectively. Login to comment 124 ABCC7 p.Gly542* Beaudet et aP7 described a patient homozygous for mutation G542X with pancreatic insufficiency and pulmonary disease milder than in the average CF patient of comparable age. Login to comment 125 ABCC7 p.Arg553* A patient homozygous for nonsense mutation R553X with lung function 'only moderately affected' at 13-5 years of age was reported by Bal et al.38 These reports indicate that mild lung symptoms of the disease are not necessarily restricted to stop mutations occurring only in the terminal half of the CFTR. Login to comment 207 ABCC7 p.Gly542* Possible suppression of the termination codon in CF patients with the G542X mutation. Login to comment 209 ABCC7 p.Arg553* ABCC7 p.Trp1316* Severe deficiency of CFTR mRNA carrying nonsense mutations R553X and W1316X in respiratory epithelial cells of patients with cystic fibrosis. Login to comment 215 ABCC7 p.Arg553* 38 Bal J, Stuhrmann M, Schlosser M, et al. A cystic fibrosis patient homozygous for the nonsense mutation R553X. Login to comment 217 ABCC7 p.Arg1162* for the CFTR nonsense mutation R1162X Nine cystic fibrosis patients homozygous http://jmg.bmj.com/content/29/8/558 Updated information and services can be found at: These include: References http://jmg.bmj.com/content/29/8/558#related-urls Article cited in: service Email alerting the box at the top right corner of the online article. Login to comment