Detecting common CFTR mutations by reverse dot blot hybridization method in cystic fibrosis first report from northern Iran

Cystic fibrosis and its distribution vary widely in different countries and/or ethnic groups. Common CFTR mutations were reported from Iran, but the northern population was not or underrepresented in those studies. The aim of this study was to determine the frequency of common CFTR mutations in children from northern Iran. Thirty unrelated Iranian cystic fibrosis patients aged less than 11 years and living in Mazandaran province were screened for 5 common CFTR gene mutations. deltaF508, N1303K, G542X, R347H and W1282X using Reverse Dot Blot method. Only one mutation, DeltaF508, was found in 7 patients accounting for 21.7% [13/60] of alleles. These findings can be used for planning future screening and appropriate genetic counseling programs in Iranian CF families

[Common CFTR gene mutations in cystic fibrosis patients in Mazandaran province - Iran]

Cystic fibrosis [CF] is the most common inherited disorder in Caucasian populations caused by mutation in cystic fibrosis transmembrane conductance regulator [CFTR]. The type of mutations and their distributions varies widely between different countries and/or ethnic groups. The aim of this study was to characterize mutations involved in this disease in Mazandaran province, Iran. In this descriptive study thirty unrelated Iranian cystic fibrosis patients were screened for deltaF508, N1303K, G542X, R347H and W1282X mutations in the CFTR gene using Reverse Dot Blot method during 2004-06. This technique uses biotinilated PCR products for simultaneous hybridization with several normal and mutant probes specific to known mutations fixed on Biodyne C membranes. DeltaF508 mutation was found in 13 [21.66%] alleles. 6 patients were homozygote and one was compound heterozygote for this mutation. These findings reveal an important heterogeneity of CFTR gene mutations in Mazandaran Province. Thus regarding the relative low rate of detectable mutations, it is necessary to undertake larger studies for molecular diagnosis of cystic fibrosis in this province

Eight year-old girl with herpes simplex encephalitis, dysentery and auditory agnosia: a case report

Despite advances in antiviral therapy over the past 2 decades, herpes simplex encephalitis [HSE] remains a serious illness with significant risk of morbidity and mortality. HSE includes a range of clinical presentations, from aseptic meningitis and fever to a severe rapidly progressive form with mental status changes [clouding of consciousness, confusion, disorientation, personality changes] and sometimes seizures [focal or generalized], dysphagia, or other focal neurological signs. Symptoms vary in intensity early in the disease, but tend to progress rapidly. Brain CT Scan and MRI can play an important role in determining the diagnosis and extent of the disease. This case report refers to an 8-year-old girl, diagnosed with herpes encephalitis that presented with seizure, bloody diarrhea and decreased level of consciousness and restlessness who recovered clinically after acyclovir treatment