2020-02-22 01:04 The Influence of Genetics on Cystic Fibrosis Phenotypes. Michael R. Knowles 1 and Mitchell Drumm 2 Cystic fibrosis (CF) is a Mendelian monogenic recessive genetic disorder caused by mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene
CF is considered a very rare disease in Asians, and fewer than 30 Chinese CF patients are reported in the literature. We enrolled seven patients of Chinese Han origin diagnosed with CF at the Peking Union Medical College Hospital, to characterize gene mutations and phenotypes of CF in Chinese patients. cf mutations and phenotypes
Patients with two CFTR mutations of classes I, II, III and VI tend to have severe CF, whereas mutation classes IV or V are usually associated with residual function of CFTR protein 4, 5 CFTR genotype: Severesevere CFTR mutations
How can the answer be improved? cf mutations and phenotypes
Aug 09, 2001 Other phenotypes associated with mutations in the cystic fibrosis transmembrane regulator gene Other sinopulmonary syndromes have been studied to test for a link to mutated CFTR; sinusitis, allergic bronchopulmonary aspergillosis, and asthma. Variant Cystic Fibrosis Phenotypes in the Absence of CFTR Mutations Article in New England Journal of Medicine 347(6): 4017 August 2002 with 39 Reads DOI: 10. 1056NEJMoa Source: PubMed Cystic Fibrosis: A Review of Associated Phenotypes, Use of Molecular Diagnostic Approaches, Genetic Characteristics, Progress, and Dilemmas Author links open overlay panel MarieLuise Brennan cf mutations and phenotypes Aug 09, 2001 Cystic fibrosis (CF) is a recessive genetic disease that is caused by mutations on both CFTR alleles, resulting in abnormal sweat electrolytes, sinopulmonary disease, male infertility, and pancreatic exocrine insufficiency in 95 of patients [1, 2. In this report, we describe the results of an expanded study, in which many patients were evaluated, of the associations between clinical phenotypes of cystic fibrosis and the F 508 mutation. In Cystic fibrosis (CF) occurs due to mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene, and more than 1000 mutant alleles have been described to date [1 x [1 Categorizing pulmonary phenotypes is much more challenging because of the inability to use dichotomous determination and the great variation in onset, then compare patients with minor mutations to this typical CF pulmonary phenotype. By this method, both patients with novel mutations have pulmonary phenotypes typical of F508del homozygotes. However, patients with class IV mutations (e. g. , R347P) or with pancreatic sufficiency showed serial chest radiographs that were atypically mild.
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