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

Sahami A, Sadeghifard N, Monsef A, Peyman H - Indian J Hum Genet (2014)

Bottom Line: Patient's skin was dark and suffered from bronchiectasis.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.

View Article: PubMed Central - PubMed

Affiliation: Department of Medical Genetic and Embryology, Faculty of Medicine, Ilam University of Medical Sciences, Ilam, Iran.

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 (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.

No MeSH data available.


Related in: MedlinePlus

The sequence resulted from sequencing process which ΔF508 mutation is seen as a heterozygote type. In this sequence, disruption in arrangement of the peaks demonstrates that one of the transmitted hereditary genes from parents to the child had been deficit
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Figure 4: The sequence resulted from sequencing process which ΔF508 mutation is seen as a heterozygote type. In this sequence, disruption in arrangement of the peaks demonstrates that one of the transmitted hereditary genes from parents to the child had been deficit

Mentions: After comprehensive genetic analysis of exon 10, there was a mutation at the position c. 1499G>C to be heterozygous (GLY >ALA) [Figures 2 and 3, Table 3]. The child has also a ΔF508 mutation as a heterozygous [Figure 4 and Table 3].


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

Sahami A, Sadeghifard N, Monsef A, Peyman H - Indian J Hum Genet (2014)

The sequence resulted from sequencing process which ΔF508 mutation is seen as a heterozygote type. In this sequence, disruption in arrangement of the peaks demonstrates that one of the transmitted hereditary genes from parents to the child had been deficit
© Copyright Policy - open-access
Related In: Results  -  Collection

License
Show All Figures
getmorefigures.php?uid=PMC4228576&req=5

Figure 4: The sequence resulted from sequencing process which ΔF508 mutation is seen as a heterozygote type. In this sequence, disruption in arrangement of the peaks demonstrates that one of the transmitted hereditary genes from parents to the child had been deficit
Mentions: After comprehensive genetic analysis of exon 10, there was a mutation at the position c. 1499G>C to be heterozygous (GLY >ALA) [Figures 2 and 3, Table 3]. The child has also a ΔF508 mutation as a heterozygous [Figure 4 and Table 3].

Bottom Line: Patient's skin was dark and suffered from bronchiectasis.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.

View Article: PubMed Central - PubMed

Affiliation: Department of Medical Genetic and Embryology, Faculty of Medicine, Ilam University of Medical Sciences, Ilam, Iran.

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 (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.

No MeSH data available.


Related in: MedlinePlus