Please use this identifier to cite or link to this item:
https://hdl.handle.net/2440/7230
Citations | ||
Scopus | Web of Science® | Altmetric |
---|---|---|
?
|
?
|
Type: | Journal article |
Title: | Intron-8 polythymidine sequence in Australasian individuals with CF mutations R117H and R117C |
Author: | Massie, R. Poplawski, N. Wilcken, B. Goldblatt, J. Byrnes, C. Robertson, C. |
Citation: | European Respiratory Journal, 2001; 17(6):1195-1200 |
Publisher: | Munksgaard Int Publ Ltd |
Issue Date: | 2001 |
ISSN: | 0903-1936 1399-3003 |
Statement of Responsibility: | R.J.H. Massie, N. Poplawski, B. Wilcken, J. Goldblatt, C. Byrnes, C. Robertson |
Abstract: | Compound heterozygotes for a severe cystic fibrosis transmembrane conductance regulator (CFTR) mutation and the R117H or R117C mutation (R117H/C) have clinical presentations that vary from classic cystic fibrosis (CF) to an incidental genetic finding. The aim of this study was to assess the influence of the intron-8 polythvmidine sequence (IVS8) on the relationship between genotype and phenotype of individuals with R117H/C. All individuals with R117H/C known to CF clinics in Australia and New Zealand were retrospectively studied by collecting information on genotype, age, pancreatic status, sweat electrolytes, sputum microbiology and pulmonary function. Forty-one individuals (39 with R117H and two with R117C), 16 on an IVS8-5T background and 25 on an IVS8-7T background were identified. Twelve individuals presented clinically, four were siblings of known R117H/C compound heterozygotes and 25 were detected by newborn screening. Eleven of 14 of the IVS8-5T group (78%) with sweat chloride results available had sweat CI > 60 mmol x L(-1) compared to 5 (20%) of the R117H/7T group (Chi-squared=10.4, p=0.001). Two were pancreatic insufficient, both IVS8-5T. Two IVS8-5T individuals have recently died (aged 43 and 19) and of the 14 surviving IVS8-5T group, 11 (79%) are symptomatic compared to eight (32%) of the IVS8-7T individuals (Chi-squared=6.1, p=0.01). In conclusion, most individuals with R117H/C on a IVS8-5T background have an elevated sweat chloride and clinical cystic fibrosis, which in some cases is severe. Most individuals with R117H/C on an IVS8-7T background do not have clinical cystic fibrosis but should be followed for the development of clinical disease. |
Keywords: | cystic fibrosis genotype phenotype R117H |
Description: | Copyright © ERS Journals Ltd 2001 |
DOI: | 10.1183/09031936.01.00057001 |
Published version: | http://dx.doi.org/10.1183/09031936.01.00057001 |
Appears in Collections: | Aurora harvest Paediatrics publications |
Files in This Item:
There are no files associated with this item.
Items in DSpace are protected by copyright, with all rights reserved, unless otherwise indicated.