Repository of Research and Investigative Information

Repository of Research and Investigative Information

Ilam University of Medical Sciences

First report of c. 1499G>C mutation in a 6-month-child with cystic fibrosis

Mon Aug 8 18:08:02 2022

(2014) First report of c. 1499G>C mutation in a 6-month-child with cystic fibrosis. Indian journal of human genetics. pp. 199-202. ISSN 0971-6866 (Print) 1998-362X (Linking)

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Official URL: https://www.ncbi.nlm.nih.gov/pubmed/25400353

Abstract

So far, more than 1800 mutations identified in the cystic fibrosis transmembrane conductance regulator (CFTR) gene. In this case report, we presented first report of c. 1499G>C mutation in a 6-month-old girl with cystic fibrosis (CF) diagnosis. A 6-month-old girl with weakness and meconium Ileus referred to the pediatric clinic in Ilam, in the west of Iran. Patient's skin was dark and suffered from bronchiectasis. The sweat test was performed, and the concentration of chloride and sodium in patient's sweat was 130-135 mmol/L and 125-128 mmol/L, respectively. The exon 10 mutation analysis of a CF patient was performed. CFTR mutation analysis revealed the identification of 2 mutations in patient, the mutations were p.F508del (DeltaF508) and c. 1499G>C (cd500), respectively. The mutation c. 1499G>C (cd500) were found for the first time in the world. Assessing this mutation in future study and genetic investigation is recommended.

Item Type: Article
Creators:
CreatorsEmail
Sahami, A.UNSPECIFIED
Sadeghifard, N.UNSPECIFIED
Monsef, A.UNSPECIFIED
Peyman, H.UNSPECIFIED
Keywords: Iran c. 1499G>C cystic fibrosis cystic fibrosis transmembrane conductance regulator direct sequencing mutations
Divisions:
Page Range: pp. 199-202
Journal or Publication Title: Indian journal of human genetics
Journal Index: Pubmed
Volume: 20
Number: 2
Identification Number: https://doi.org/10.4103/0971-6866.142911
ISSN: 0971-6866 (Print) 1998-362X (Linking)
Depositing User: مهندس مهدی شریفی
URI: http://eprints.medilam.ac.ir/id/eprint/1126

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