Background Autism spectrum disorder (ASD) is a neurodevelopmental disease, characterized by impaired social communication, executive dysfunction, and abnormal perceptual processing. It is more frequent among males. All of these clinical manifestations are associated with atypical neural development. Various genetic and environmental risk factors are involved in the etiology of autism. Genetic assessment is essential for the early detection and intervention which can improve social communications and reduce abnormal behaviors. Although, there is a noticeable ASD incidence in Middle East countries, there is still a lack of knowledge about the genetic and molecular biology of ASD among this population to introduce efficient diagnostic and prognostic methods. Main body In the present review, we have summarized all of the genes which have been associated with ASD progression among Middle East population. We have also categorized the reported genes based on their cell and molecular functions. Conclusions This review clarifies the genetic and molecular biology of ASD among Middle East population and paves the way of introducing an efficient population based panel of genetic markers for the early detection and management of ASD in Middle East countries.

Hepatoblastoma (HB) is a common pediatric hepatic tumor. Occurrence and progression of various malignancies are enhanced by abnormal competitive endogenous RNA (ceRNA) axes. Although, ceRNAs can be considered effective prognostic, diagnostic, and therapeutic targets, it is poorly investigated in HB. An lncRNA-related ceRNA network is developed in the current study to clarify HB's underlying molecular regulatory mechanism. First, two microarray datasets regarding the liver specimens of HB patients and controls were downloaded from Gene Expression Omnibus database, which contained mRNAs, lncRNAs (GSE75271), and miRNAs (GSE75283) data. R software package limma was used to identify the differentially expressed lncRNAs (DElncRNAs), mRNAs (DEmRNAs), and miRNAs (DEmiRNAs). Databases, miRTarBase and DIANA-LncBas, were applied to identify RNA interactions. The enrichment of pathways for DEmRNAs was done by Enrich tool. Cytoscape and STRING were utilized for the development of a protein-protein interaction network of DEmRNAs and the identification of the top five hub genes. Eventually, based on DElncRNA-miRNA-DEmRNA connections and co-expressions, the lncRNA-associated ceRNA axes were constructed. Results of the present study showed that 39 DEmRNAs (e.g., CDK4, CDK6, CCNA2, CCND2, and HMGA2) are involved in the HB ceRNA network. Furthermore, 27 DElncRNAs (e.g., CRNDE, GAS5, LINC00205, and ZFAS1) were identified as regulating the mentioned mRNAs through sponging eight DEmiRNAs (e.g., hsa-miR-195-5p, hsa-miR-29c-3p, hsa-miR-22-3p, hsa-let-7c-5p, hsa-let-7g-5p). Analysis of pathway enrichment demonstrated the enrichment of DEmRNAs in "Pathways in cancer", "MicroRNAs in cancer", "Hippo signaling pathway", "Human papillomavirus infection", and "Cellular senescence". This study identified the ceRNAs networks important for the molecular mechanism of HB development.

No abstract

Background Sandhoff disease is a rare neurodegenerative and autosomal recessive disorder, characterized by a defect in ganglioside metabolism. It is caused by mutations in the HEXB gene for the β-subunit of β-N-acetyl hexosaminidase. Results In the present study, an Iranian 14- month -old girl with an 8- month history of unsteady walking and involuntary movements is described. Biochemical testing showed defects in the normal activity of beta-hexosaminidase protein. Following sequencing of HEXB gene, a novel homozygous p.A278V mutation was identified in the patient’s DNA. Conclusions The p.A278V mutation is pathogenic because of amino acid change and changing in biochemical activity. this mutation has not been reported previously, but based on In silico analysis and structural analysis, was predicted to be disease causing.