Prevalence of Cystic Fibrosis Trans-membrane Conductance Regulator Gene common mutations in children with cystic fibrosis in Isfahan, Iran

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REISI MOHSEN; BEHNAM MAHDIEH; SAYEDI SEYED JAVAD; Salimi Farzaneh; Kargar Pegah; SALEHI MANSOOR; SANEIAN HOSSEIN; KASHANI IMAN; KELISHADI ROYA

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Journal: Journal of Pediatric Perspectives Year:2019 | Volume:7 | Issue:4 (64) Page(s): 9333-9339

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Title

Prevalence of Cystic Fibrosis Trans-membrane Conductance Regulator Gene common mutations in children with cystic fibrosis in Isfahan, Iran

Author(s)

Keywords

Children

Cystic fibrosis

Mutations

Prevalence

Sweat test

Abstract

Background: Cystic fibrosis (CF) is the most common lethal genetic disorder of Cystic fibrosis Trans-membrane Conductance (CFTR) Regulator gene Mutations. We aimed to investigate common Mutations in CF patients and to assess its possible relationship with clinical presentations. Materials and Methods: This cross sectional study was conducted on 36 CF patients who were referred to a tertiary pediatric hospital in Isfahan, Iran. They were evaluated for 34 common Mutations in CFTR gene by using reverse dot blot strip assay. Other parameters such as the age of diagnosis, the sweat chloride level, and clinical manifestations due to lung involvement and pancreatic insufficiency were also assessed. According to genotype Mutations, Children were divided in three groups: Δ F508 mutation (group 1), non-Δ F508 mutation (group 2), without current Mutations (group 3). Finally, genotype, and phenotype relationship were reported. Results: The mean age of patients was 8. 1+2. 3 months, and 23 of them (63%) were male. CFTR Mutations were found in fourteen patients (38. 8%). Δ F508 mutation has the highest Prevalence in the studied samples with allele frequency of 15. 27%, and c. 2183 AA>G was in the second standing. Furthermore, p. R553X, p. G542X, C. 1766+1, p. N1303K mutated alleles also were obtained in lower level. Mean age at the diagnosis time of CF, sweat chloride level and pancreatic insufficiency were not different between groups but lung complications were significant in Children with common Mutations. Conclusion: Our findings showed that commercial kit designed to identify 34 common CFTR Mutations failed to detect 61. 2% of alleles of our patients. This necessitates designing local diagnostic kits for proper diagnosis of CF in Iranian Children.

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APA: Copy

REISI, MOHSEN, BEHNAM, MAHDIEH, SAYEDI, SEYED JAVAD, Salimi, Farzaneh, Kargar, Pegah, SALEHI, MANSOOR, SANEIAN, HOSSEIN, KASHANI, IMAN, & KELISHADI, ROYA. (2019). Prevalence of Cystic Fibrosis Trans-membrane Conductance Regulator Gene common mutations in children with cystic fibrosis in Isfahan, Iran. INTERNATIONAL JOURNAL OF PEDIATRICS, 7(4 (64)), 9333-9339. SID. https://sid.ir/paper/337672/en

Vancouver: Copy

REISI MOHSEN, BEHNAM MAHDIEH, SAYEDI SEYED JAVAD, Salimi Farzaneh, Kargar Pegah, SALEHI MANSOOR, SANEIAN HOSSEIN, KASHANI IMAN, KELISHADI ROYA. Prevalence of Cystic Fibrosis Trans-membrane Conductance Regulator Gene common mutations in children with cystic fibrosis in Isfahan, Iran. INTERNATIONAL JOURNAL OF PEDIATRICS[Internet]. 2019;7(4 (64)):9333-9339. Available from: https://sid.ir/paper/337672/en

IEEE: Copy

MOHSEN REISI, MAHDIEH BEHNAM, SEYED JAVAD SAYEDI, Farzaneh Salimi, Pegah Kargar, MANSOOR SALEHI, HOSSEIN SANEIAN, IMAN KASHANI, and ROYA KELISHADI, “Prevalence of Cystic Fibrosis Trans-membrane Conductance Regulator Gene common mutations in children with cystic fibrosis in Isfahan, Iran,” INTERNATIONAL JOURNAL OF PEDIATRICS, vol. 7, no. 4 (64), pp. 9333–9339, 2019, [Online]. Available: https://sid.ir/paper/337672/en

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