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Gene mutations
- Thread starter Mairi
- Start date
candiebar76
New member
I found this when the dr. recommended our son be tested for cf due to sinusitis. It makes note of the N1303k. I don't know if this is helpful.
Mutation in the Gene Responsible for Cystic Fibrosis and Predisposition to Chronic Rhinosinusitis in the General Population
XinJing Wang, MD, PhD; Birgitta Moylan; Donald A. Leopold, MD; Jean Kim, MD, PhD; Ronald C. Rubenstein, MD, PhD; Alkis Togias, MD; David Proud, PhD; Pamela L. Zeitlin, MD, PhD; Garry R. Cutting, MD
JAMA. 2000;284:1814-1819.
Context Chronic rhinosinusitis (CRS) is a common condition in the US general population, yet little is known about its underlying molecular cause. Chronic rhinosinusitis is a consistent feature of the autosomal recessive disorder cystic fibrosis (CF).
Objective To determine whether mutations in the cystic fibrosis transmembrane regulator (CFTR) gene, which is responsible for CF, predispose to CRS.
Design Case-control study conducted from 1996 to 1999 in which the DNA of CRS patients and controls was typed for 16 mutations that account for 85% of CF alleles in the general population. Chronic rhinosinusitis patients with 1 CF mutation were evaluated for a CF diagnosis by sweat chloride testing, nasal potential difference measurement, and DNA analysis for additional mutations.
Setting Otolaryngology - head and neck clinic of a US teaching hospital.
Participants One hundred forty-seven consecutive adult white patients who met stringent diagnostic criteria for CRS and 123 CRS-free white control volunteers of similar age range, geographic region, and socioeconomic status.
Main Outcome Measures Presence of CF mutations by DNA analysis among CRS patients vs controls.
Results Eleven CRS patients were found to have a CF mutation (F508, n = 9; G542X, n = 1; and N1303K, n = 1). Diagnostic testing excluded CF in 10 of these patients and led to CF diagnosis in 1. Excluding this patient from the analyses, the proportion of CRS patients who were found to have a CF mutation (7%) was significantly higher than in the control group (n = 2 [2%]; P = .04, both having F508 mutations). Furthermore, 9 of the 10 CF carriers had the polymorphism M470V, and M470V homozygotes were overrepresented in the remaining 136 CRS patients (P = .03).
Conclusion These data indicate that mutations in the gene responsible for CF may be associated with the development of CRS in the general population.
Author Affiliations: McKusick-Nathans Institute of Genetic Medicine (Drs Wang and Cutting), Department of Medicine (Drs Togias and Proud and Ms Moylan), Department of Otolaryngology - Head and Neck Surgery (Drs Leopold and Kim), and Department of Pediatrics (Drs Rubenstein, Zeitlin, and Cutting), Johns Hopkins University School of Medicine, Baltimore, Md. Dr Rubenstein is now affiliated with the Department of Pulmonary Medicine, Children's Hospital of Philadelphia, Philadelphia, Pa.
Mutation in the Gene Responsible for Cystic Fibrosis and Predisposition to Chronic Rhinosinusitis in the General Population
XinJing Wang, MD, PhD; Birgitta Moylan; Donald A. Leopold, MD; Jean Kim, MD, PhD; Ronald C. Rubenstein, MD, PhD; Alkis Togias, MD; David Proud, PhD; Pamela L. Zeitlin, MD, PhD; Garry R. Cutting, MD
JAMA. 2000;284:1814-1819.
Context Chronic rhinosinusitis (CRS) is a common condition in the US general population, yet little is known about its underlying molecular cause. Chronic rhinosinusitis is a consistent feature of the autosomal recessive disorder cystic fibrosis (CF).
Objective To determine whether mutations in the cystic fibrosis transmembrane regulator (CFTR) gene, which is responsible for CF, predispose to CRS.
Design Case-control study conducted from 1996 to 1999 in which the DNA of CRS patients and controls was typed for 16 mutations that account for 85% of CF alleles in the general population. Chronic rhinosinusitis patients with 1 CF mutation were evaluated for a CF diagnosis by sweat chloride testing, nasal potential difference measurement, and DNA analysis for additional mutations.
Setting Otolaryngology - head and neck clinic of a US teaching hospital.
Participants One hundred forty-seven consecutive adult white patients who met stringent diagnostic criteria for CRS and 123 CRS-free white control volunteers of similar age range, geographic region, and socioeconomic status.
Main Outcome Measures Presence of CF mutations by DNA analysis among CRS patients vs controls.
Results Eleven CRS patients were found to have a CF mutation (F508, n = 9; G542X, n = 1; and N1303K, n = 1). Diagnostic testing excluded CF in 10 of these patients and led to CF diagnosis in 1. Excluding this patient from the analyses, the proportion of CRS patients who were found to have a CF mutation (7%) was significantly higher than in the control group (n = 2 [2%]; P = .04, both having F508 mutations). Furthermore, 9 of the 10 CF carriers had the polymorphism M470V, and M470V homozygotes were overrepresented in the remaining 136 CRS patients (P = .03).
Conclusion These data indicate that mutations in the gene responsible for CF may be associated with the development of CRS in the general population.
Author Affiliations: McKusick-Nathans Institute of Genetic Medicine (Drs Wang and Cutting), Department of Medicine (Drs Togias and Proud and Ms Moylan), Department of Otolaryngology - Head and Neck Surgery (Drs Leopold and Kim), and Department of Pediatrics (Drs Rubenstein, Zeitlin, and Cutting), Johns Hopkins University School of Medicine, Baltimore, Md. Dr Rubenstein is now affiliated with the Department of Pulmonary Medicine, Children's Hospital of Philadelphia, Philadelphia, Pa.