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

Abbas Sahami, Nourkhoda Sadeghifard, Alireza Monsef, Hadi PeymanIndian Journal of Human Genetics 2014 20(2):199-202So 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.

Source: Indian Journal of Human Genetics - October 14, 2014 Category: Genetics & Stem Cells Authors: Abbas SahamiNourkhoda SadeghifardAlireza MonsefHadi Peyman Source Type: research