Document Detail

Intron-8 polythymidine sequence in Australasian individuals with CF mutations R117H and R117C.
MedLine Citation:
PMID:  11491164     Owner:  NLM     Status:  MEDLINE    
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.
R J Massie; N Poplawski; B Wilcken; J Goldblatt; C Byrnes; C Robertson
Related Documents :
15133094 - Significant differences in type iv pilin allele distribution among pseudomonas aerugino...
16189704 - Extensive sequencing of the cftr gene: lessons learned from the first 157 patient samples.
1716244 - Ca/gt microsatellite alleles within the cystic fibrosis transmembrane conductance regul...
9334604 - Congenital absence of the vas deferens: incomplete penetrance of cystic fibrosis gene m...
23769684 - Apathy is associated with a single-nucleotide polymorphism in a dopamine-related gene.
16419114 - Hepatitis b virus genotyping, core promoter, and precore/core mutations among afghan pa...
Publication Detail:
Type:  Journal Article; Research Support, Non-U.S. Gov't    
Journal Detail:
Title:  The European respiratory journal     Volume:  17     ISSN:  0903-1936     ISO Abbreviation:  Eur. Respir. J.     Publication Date:  2001 Jun 
Date Detail:
Created Date:  2001-08-08     Completed Date:  2001-12-18     Revised Date:  2013-05-23    
Medline Journal Info:
Nlm Unique ID:  8803460     Medline TA:  Eur Respir J     Country:  Denmark    
Other Details:
Languages:  eng     Pagination:  1195-200     Citation Subset:  IM    
Dept of Respiratory Medicine, Royal Children's Hospital, Melbourne, Australia.
Export Citation:
APA/MLA Format     Download EndNote     Download BibTex
MeSH Terms
Child, Preschool
Cystic Fibrosis / diagnosis,  genetics*,  mortality
Cystic Fibrosis Transmembrane Conductance Regulator / genetics*
Introns / genetics*
Mutation / genetics*
New Zealand
Oceanic Ancestry Group / genetics*
Survival Analysis
Reg. No./Substance:
0/CFTR protein, human; 126880-72-6/Cystic Fibrosis Transmembrane Conductance Regulator

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine

Previous Document:  The German cystic fibrosis quality assurance project: clinical features in children and adults.
Next Document:  Increased nitrotyrosine in exhaled breath condensate in cystic fibrosis.