ABCMdb

PMID: 10401194

Frossard PM, Bakalinova D, Hertecant J, Bossaert Y, Dawson KP
Radiological analysis of children with cystic fibrosis who are homozygous for cystic fibrosis transmembrane conductance regulator mutation S549R (T-->G).
J Trop Pediatr. 1999 Jun;45(3):158-60., [PubMed]

Sentences

No. Mutations Sentence Comment

2 ABCC7 p.Ser549Arg We investigated the extent and severity of lung disease associated with CFTR mutation S549R (T ! Login to comment 6 ABCC7 p.Ser549Arg Detailed radiological analyses were performed by a single observer in 12 children with CF from the United Arab Emirates who were homozygous for CFTR mutation S549R (T ! Login to comment 15 ABCC7 p.Ser549Arg Genotype±phenotype correlations have been established with pancreatic status, while lung involvement is not clearly related to the CFTR genotype.6±9 We have reported previously that a very severe form of cystic ®brosis amongst nationals from the UAE is due to mutation S549R (T ! Login to comment 29 ABCC7 p.Ser549Arg ABCC7 p.Ser549Arg CFTR S549R mutation analysis DNA samples from the 12 CF patients were extracted from leukocytes isolated from 2 ml of venous blood collected in ethylene diamine tetraacetic acid (EDTA) tubes according to standard protocols.11 The determination of presence of mutation S549R in both alleles was done routinely by DraIII restriction endonuclease analysis of exon 11 polymerase chain reaction (PCR) products, and con®rmed by sequencing analysis according to protocols and conditions that have been described elsewhere.11 Clinical investigations Detailed radiological analyses were carried out in the 12 patients by a single observer in order to evaluate both the severity and the extent of lung disease. Login to comment 65 ABCC7 p.Ser549Arg We sought to determine the degree of homogeneity in the pulmonary phenotypic expression of mutation S549R (T ! Login to comment 67 ABCC7 p.Ser549Arg P. M. FROSSARD ET AL. Journal of Tropical Pediatrics Vol. 45 June 1999 We have previously shown that, amongst UAE nationals who are of Bedouin origin, CF is due to mutation S549R (T ! Login to comment 69 ABCC7 p.Ser549Arg As the two NBFs have key regulatory roles in CFTR function, S549R (T ! Login to comment 82 ABCC7 p.Ser549Arg These combined ®ndings clearly indicate that the phenotypic expression of lung disease due to CFTR mutation S549R (T ! Login to comment 84 ABCC7 p.Ser549Arg In this respect, the pulmonary phenotype expression of mutation S549R (T ! Login to comment