Background: Congenital hearing loss due to different genetic and environmental causes affects 1 in 1000 newborns. Mutations in the GJB2 (Gap Junction Beta-2) gene encoding the gap junction protein connexin 26 have been established as the main cause of autosomal recessive non-syndromic hearing loss. Materials and methods: The aim of this study was to study the frequency of GJB2 Mutations in Lor...

cystic fibrosis is an autosomal recessive disease caused by a wide spectrum of mutations in the gene encoding for the cystic fibrosis transmembrane conductance regulator protein. these mutations that correlate with different phenotypes, vary in their frequency and distribution in different populations. in this study missense mutation r117h that associated with the different clinical symptoms wa...

glucose-6-phosphate dehydrogenase (g6pd) is a greatly polymorphic enzyme encoded by human x-linked gene. g6pd deficit is the most public enzymopathy in human with about 400 million people affected globally. it is the main controlling enzyme in the hexose monophosphate shunt catalase the oxidation of glucose-6-phosphate  to 6-phosphogluconolacton and the creation of reducing equals in the form o...

Objective(s): KRAS proto-oncogene mutation can be considered a diagnostic factor for treating various malignancies. Helicobacter pylori infection, a risk factor for stomach cancer, may cause DNA damage and genetic changes. The aim of the current study was to assess the association of gastric cancer and KRAS mutation, demographic factors, and H. pylori infection.<...

Background: Familial Mediterranean fever (FMF) is an autoinflammatory genetic disorder that associated with different mutations. Frequency of clinical manifestation differs according to age group, geographic region and ethnic population. Objectives: To study the FMF in relation genotype (M680I, M694V, M694I V726A). Result: The main presentation studied group was abdominal pain 65.9% (203), foll...

background: mutations in the gjb2 gene encoding connexin 26 protein, are the main cause for autosomal recessive and sporadic non syndromic hearing loss in many populations. here, we have taken together and reviewed results from our six previous publications, our unpublished data from ten iranian provinces, as well as data from two previous mutation reports to provide a comprehensive collection ...

Sotos syndrome is an autosomal dominant genetic disorder caused by mutations in the NSD1 gene. In this study, we report a case of preterm infant. The main clinical manifestations were severe bronchopulmonary dysplasia, congenital heart disease, difficulty feeding, and characteristic facial appearance. gene mutation was located at 177251854 on chromosome 5, identified as shear mutation, c.4765+1...