background: mitochondrial transfer rnas (trna) genes are essential components of protein biosynthesis. these genes are hotspots for mutations. these mutations are associated with a wide spectrum of human disease. many genetic factors are known in assessment of repeated pregnancy loss (rpl). objective: the aim of this study was analysis of trna thr and trna pro in women with rpl. materials and m...

objective: methylmalonic acidura (mma) is a rare autosomal recessive inborn error of metabolism. in this study we present a novel nucleotide change in the mutase (mut) gene of two unrelated iranian pedigrees and introduce the methods used for its functional analysis. materials and methods: two probands with definite diagnosis of mma and a common novel variant in the mut were included in a descr...

objective(s) despite the enormous heterogeneity of genetic hearing loss, most non-syndromic hearing losses are caused by mutations in the gjb2 gene. we aimed to characterize the mutation profiles of 100 iranian deaf patients that were under 10 years old. materials and methods patients were tested with direct sequencing of entire coding region of the gjb2 gene. results eight known mutations plus...

introduction: haemophilia a is the most common inherited x-linked recessive bleeding disorder. the severity of the resultant bleeding diathesis depends on the fviii levels associated with the mutation. analysis of carrier state can be made indirectly by dna linkage analysis or directly by identifying the mutation that leads to the disease. the aim of this study was to identification of the caus...

leukocyte adhesion deficiency type-1(lad-1) is one of the autosomal recessive immunodeficiency diseases that results from mutation in integrin beta 2 (itgb2) gene. the aim of this study was to investigate molecular prenatal diagnosis of lad-1. four pregnant women with five fetuses (one twin fetus) with clinical and laboratory diagnosis of lad-1 in their previous children were studied. the chori...

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...

conclusions the mutation ratio difference between genotypes b and c in children was higher than that of adults and several combined mutations were exclusively detected in children with chronic hbv genotype c infection associated with higher viral load. objectives the aim of this study was to assess the mutation profiles of bcp and precore regions in different hbv genotypes in chronically infect...

since its advent in 1867,the arabic novel has been under the influence of two factors. one factor is longing for the past, the other one is infatuation with the west and submission to its hegemony. in early 20th century, some novels were written in response to public taste and arab culture. this novel is considered by critics of fiction to be a turning point in the path of arabic fiction. at th...

how to cite this article: ashrafi mr, tavasoli ar, katibeh p, aryani o, vafaee-shahi m. a novel mutation in aspartoacylase gene; canavan disease. iran j child neurol. autumn 2015; 9(4): 54-57. abstract objective canavan disease (cd) is a type of vacuolating leukodystrophy with autosomal recessive inheritance. aspartoacylase deficiency results in decrease of myelin biosynthesis, dysmyelination a...