CLINICAL AND GENETIC FEATURES IN PATIENTS WITH CYSTIC FIBROSIS IN SOUTHWESTERN IRAN

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FARJADIAN SHIRIN; MOGHTADERI MOZHGAN; KASHEF SARA; ALYASIN SOHEILA; NAJIB KHADIJEHSADAT; SAKI FOROUGH

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Journal: Iranian Journal of Pediatrics Year:2013 | Volume:23 | Issue:2 Page(s): 212-215

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Title

CLINICAL AND GENETIC FEATURES IN PATIENTS WITH CYSTIC FIBROSIS IN SOUTHWESTERN IRAN

Author(s)

Keywords

CYSTIC FIBROSIS

CFTR GENE MUTATIONS

CLINICAL PRESENTATION

Abstract

Objective: CYSTIC FIBROSIS (CF) is a common autosomal recessive genetic disease caused by a mutation in the CF transmembrane conductance regulatory (CFTR) gene. This study attempted to identify the most common CFTR mutations and any correlations between certain mutations and the CLINICAL PRESENTATION of the disease in CF patients in southwestern Iran.Methods: Twenty nine common CFTR GENE MUTATIONS were examined in 45 CF patients.Findings: Chronic cough, intestinal obstruction, dehydration, heat exhaustion and steatorrhea were the most common early clinical symptoms among our patients. The most common mutation was DF508, with an allele frequency of 21%. The homozygous DF508 mutation was observed in eight patients (18%), and three patients (7%) were DF508 carriers. The 2183AA>G mutation was observed in four patients, one of whom was also a DF508 carrier. The R1162X mutation was detected in two patients. The G542X, R334W and N1303K mutations were detected each in one patient, the first of whom was also a DF508 carrier.Conclusion: Out of 45 patients, 27 (60%) had none of the CFTR GENE MUTATIONS we tested for. The most frequent mutations in southwestern Iranian patients with CF should be identified by sequencing the entire CFTR gene in order to optimize the design of a diagnostic kit for common regional mutations.

Cites

ASSOCIATION OF TNF-α GENE VARIANTS WITH CLINICAL MANIFESTATION OF CYSTIC FIBROSIS PATIENTS OF IRANIAN AZERI TURKISH ETHNICITY

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APA: Copy

FARJADIAN, SHIRIN, MOGHTADERI, MOZHGAN, KASHEF, SARA, ALYASIN, SOHEILA, NAJIB, KHADIJEHSADAT, & SAKI, FOROUGH. (2013). CLINICAL AND GENETIC FEATURES IN PATIENTS WITH CYSTIC FIBROSIS IN SOUTHWESTERN IRAN. IRANIAN JOURNAL OF PEDIATRICS, 23(2), 212-215. SID. https://sid.ir/paper/669151/en

Vancouver: Copy

FARJADIAN SHIRIN, MOGHTADERI MOZHGAN, KASHEF SARA, ALYASIN SOHEILA, NAJIB KHADIJEHSADAT, SAKI FOROUGH. CLINICAL AND GENETIC FEATURES IN PATIENTS WITH CYSTIC FIBROSIS IN SOUTHWESTERN IRAN. IRANIAN JOURNAL OF PEDIATRICS[Internet]. 2013;23(2):212-215. Available from: https://sid.ir/paper/669151/en

IEEE: Copy

SHIRIN FARJADIAN, MOZHGAN MOGHTADERI, SARA KASHEF, SOHEILA ALYASIN, KHADIJEHSADAT NAJIB, and FOROUGH SAKI, “CLINICAL AND GENETIC FEATURES IN PATIENTS WITH CYSTIC FIBROSIS IN SOUTHWESTERN IRAN,” IRANIAN JOURNAL OF PEDIATRICS, vol. 23, no. 2, pp. 212–215, 2013, [Online]. Available: https://sid.ir/paper/669151/en

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