The Iranian Rehabilitation Journal (IRJ) invites research papers on the genetic basis of single gene and complex disorders. This vastly dynamic branch of science will complement the multidisciplinary wealth of expertise in the fields of social welfare and rehabilitation. The past few years have witnessed outstanding research projects on the genetic causes of numerous debilitating disorders, suc...

cancer, with a high rate of mortalities worldwide, pose a major threat to human health. although family history accounts for at least 5-10% of all cancers, it is conferred to be as a significant risk of developing cancer. recently, application of high speed and low cost high-throughput nucleotide sequencing technologies has provided an opportunity to assess cancer risk in at risk healthy indivi...

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background: progressive encephalopathy with or without lipodystrophy is a rare autosomal recessive childhood-onset seipin-associated neurodegenerative syndrome, leading to developmental regression of motor and cognitive skills. in this study, we introduce a patient with developmental regression and autism. the causative mutation was found by exome sequencing. methods: the proband showed a gener...

Whole Exome Sequencing (WES) has been increasingly utilized in genetic determinants of various inherited diseases. We identified a new variation in SERAC1 as the cause of 3-Methylglutaconic Aciduria (MEG), Deafness (D), Encephalopathy (E), and Leigh-like (L), MEGDEL syndrome using WES. We found an insertion, rs797045105 (chr6, 158571484, C>CCATG), in the SERAC1 gene with homozygous genotype in ...

hearing loss (hl) is the most common communication disorder affecting about 1/1000 births worldwide caused by environmental or genetic factors. about 30-50% is attributed to genetic factors and till now more than 85 genes have been implicated in non-syndromic hl. in iran, hl is second to intellectual disability as the most common disability, affecting 1 of every 166 persons. about 15 years ago ...

Background: Progressive encephalopathy with or without lipodystrophy is a rare autosomal recessive childhood-onset seipin-associated neurodegenerative syndrome, leading to developmental regression of motor and cognitive skills. In this study, we introduce a patient with developmental regression and autism. The causative mutation was found by exome sequencing. Methods: The proband showed a gener...

Recent advances in next-generation sequencing technologies have transformed the genetics study of human diseases; this is an era of unprecedented productivity. Exome sequencing, the targeted sequencing of the protein-coding portion of the human genome, has been shown to be a powerful and cost-effective method for detection of disease variants underlying Mendelian disorders. Increasing effort ha...

By limiting sequencing to those sequences transcribed as mRNA, whole exome sequencing is a cost-efficient technique often used in disease-association studies. We developed two target enrichment designs based on the recently released annotation of the canine genome: the exome-plus design and the exome-CDS design. The exome-plus design combines the exons of the CanFam 3.1 Ensembl annotation, more...

background: previous studies have shown that leukemogenic chromosomal translocations, including fusions between break point cluster region (bcr) and abelson (abl) are present in the peripheral blood of healthy individuals. the aim of this study was to gain insights into the genetic alterations other than bcr-abl translocation in molecular level, which cause chronic myeloid leukemia (cml). metho...