Novel Mutations of ATP7B gene in Iranian patients with Wilson's disease

Wilson's disease is a rare autosomal recessive disorder characterized by toxic accumulation of copper in liver and brain. The disorder is caused by mutations in the ATP7B gene, encoding a copper transporting P-type ATPase. Characterization of the spectrum of mutations in this gene is important both for diagnosis and genetic counseling of the families. We enrolled 30 definitely diagnosed patients [ages ranging from 3 to 33]. Genomic DNA was extracted from peripheral blood samples. All the exons of the gene were amplified by polymerase chain reaction using specified primers for each exon. The amplification products were then analyzed by direct automated sequencing. 87% of our patients had liver problems while 47% of suffered from neurological problems. In this study we will report the spectrum of mutation found among Iranian families, which are mainly different from other reports. By performing the present study, some new mutations in ATP7B gene, Del C 3696[1232] and S1369L were identified for the first time in Wilson's disease patients

[Genetic analysis of FMF in a small village with high frequency in North West of Iran]

Familial Mediterranean Fever [FMF] is an inherited inflammatory disorder which caused by mutations in the MEFV gene. The disease is common among Turks, Armenians and Arabs, whereas no data from the neighbor countries is available. We studied an 8 years old boy with periodic fever and recurrent abdominal pain. Genotype analysis was performed by reverse-hybridization for 12 most frequent variants. Result indicated the patient and several individuals in the family were compound heterozygote or homozygote for the mutations. Genetic analysis for the other individuals without any clinical features in the village showed an allelic frequently of 22%, which is the highest rate reported to date

[Genetic analysis for Gaucher disease in two Iranian families]

Gaucher disease [GD] is one of the lysosomal storage disorders which inherited in an autosomal recessive mode. There is no data available from the incidence of the disease in Iran. The aim of the study was to determine the type of mutations and clinical information in Iranian patients. After detection of the mutations for the parents we performed prenatal diagnosis for the pregnancies at risk. The result of genetic analysis for two families was similar and indicated L444P mutation for both diagnoses. The result indicated that the two fetuses were normal for the disease and inherited L444P mutation in heterozygote status