Indian Journal of Human Genetics
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CASE REPORT
Year : 2014  |  Volume : 20  |  Issue : 2  |  Page : 199-202

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


1 Department of Medical Genetic and Embryology, Faculty of Medicine, Ilam University of Medical Sciences, Ilam, Iran
2 Department of Microbiology, Faculty of Medicine; Clinical Microbiology Research Center, Ilam University of Medical Sciences, Ilam, Iran
3 Department of Pathology, Hamadan University of Medical Sciences, Hamadan, Iran
4 Research Center for Prevention of Psychosocial Injuries, Ilam University of Medical Sciences, Ilam, Iran

Correspondence Address:
Nourkhoda Sadeghifard
Department of Microbiology, Faculty of Medicine, Ilam University of Medical Sciences, Pazhuhesh BLVD, Ilam
Iran
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Source of Support: None, Conflict of Interest: None


DOI: 10.4103/0971-6866.142911

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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 (ΔF508) 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.


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