Identification and bioinformatics analysis of a novel variant in the gene in a patient with intellectual developmental disorder.

HERC2-associated neurodevelopmental-disorders(NDD) encompass a cluster of medical conditions that arise from genetic mutations occurring within the gene. These disorders can manifest a spectrum of symptoms that impact the brain and nervous system, including delayed psychomotor development, severe mental retardation, seizures and autistic features. Whole-Exome-Sequencing(WES) was performed on a ten-year-old male patient referred to the genetic center for genetic analysis.

Identification of Two Novel Pathogenic Variants of the Gene in the Iranian-Azeri Turkish Ethnic Group by Applying Whole Exome Sequencing.

Background: The gene encodes a multifunctional kinase involved in important cellular functions, such as checkpoint signaling and apoptosis, in response to DNA damage. Bi-allelic pathogenic variants in this gene cause Ataxia Telangiectasia (AT), while carriers of pathogenic variants are at increased risk of cancer depending on the pathogenicity of the variant they carry. Identifying pathogenic variants can aid in the management of the disease in carriers.

Identification of a de novo, Novel Pathogenic Variant in the Splice Region of the Gene in an Iranian Azeri Turkish Family with Waardenburg Syndrome.

Background: Waardenburg syndrome (WS) is an inherited heterogeneous auditory pigmentary syndrome, divided into at least four types and characterized by iris heterochromia, white forelock, prominent nasal root, dystopia canthorum, middle eyebrow hypertrichosis, and deafness. Pathogenic variants in the gene have been reported to be involved in WS disease.

Methods: Whole exome sequencing (WES) was conducted on a 24-year-old male, who originated from Iranian Azeri Turkish ethnic group, with symptoms of deafness and blue eyes from brown-eyed parents.

A novel loss of function mutation in the PHD domain of the RAG2 gene, affecting zinc-binding affinity.

Background: Severe combined immune deficiencies (SCIDs) are genetically heterogeneous disorders that lead to the absence or malfunction of adaptive immune cells, including T- and B-cells. Pathogenic variants in the RAG2 gene are associated with this disease.

Methods: A couple with consanguineous marriage from the Iranian-Azeri-Turkish ethnic group was referred to the genetic lab.

Identification of a novel mutation in the gene in an Iranian family with autosomal recessive congenital myopathy, with fibre-type disproportion.

Congenital fibre-type disproportion (CFTD) with myopathy, is a genetically heterogeneous disease in which there is relative hypotrophy of type-1-muscle-fibres compared to type-2-fibres on skeletal muscle biopsy. The classical characteristics of CFTD are infantile hypotonia and nonprogressive muscle weakness with a broad range of clinical manifestations. Pathogenic mutations in the gene encoding 3-hydroxyacyl-CoA-dehydratase-1 have recently been reported to be associated with this disease.

Role of CFH Y402H and ARMS2 A69S polymorphisms in susceptibility to post rhegmatogenous retinal detachment macular complications.

Introduction: Rhegmatogenous retinal detachment (RRD) is the most common type of retinal detachment. Purpose of this study is to evaluate the possible association of ARMS2 (age-related macular susceptibility 2) A69S and CFH (complement factor H) Y402H polymorphisms with post-surgical macular complications.

Materials And Methods: One hundred and two RRD patients with macular involvement and proliferative vitreoretinopathy grade A prospectively were enrolled in the study.

Lack of Association between Monocyte Chemoattractant Protein-1 (MCP-1) Gene Promoter Polymorphism and Behcet's Disease with and without Ocular Involvement in Iranian Population: A Case-Control Study.

Purpose: This case-control study aimed to evaluate the possible association of MCP-1 - 2518A/G genetic polymorphism with Behcet's disease (BD) in the Iranian patients.

Materials And Methods: This study was performed in 135 Behcet's patients (51 ocular and 84 non-ocular) and 79 healthy individuals. Peripheral blood samples were genotyped for MCP-1 - 2518A/G using the PCR-RFLP technique.

Genotypes of ANKK1 and DRD2 genes and risk of metabolic syndrome and its components: A cross-sectional study on Iranian women.

We aimed to investigate the association between polymorphism of DRD2/ANKK1 gene with MetS and its components. Women (n = 531, aged 19-50 years) from the North-west of Iran were included by cluster sampling method. Polymorphisms of ANKK1 and DRD2 genes were defined in the study population.

Role of complement factor B rs4151667 (L9H) polymorphisms and its interactional role with CFH Y402H and C3 rs2230199 (R102G) risk variants in age-related macular degeneration: a case control study.

Background: Age-related Macular Degeneration (AMD) is a complex eye disease, which is genetically associated with different susceptibility loci. We planned to investigate the possible association of Complement Factor B (CFB) rs4151667 (L9H) variants and their possible interaction with Complement Factor H (CFH) Y402H and Complement factor 3 (C3) rs2230199 (R102G) in AMD.

Methods: This case-control association study included 216 advanced type AMD patients and 191 healthy individuals for evaluation.

Association of Saitohin gene rs62063857 polymorphism with dry type age-related macular degeneration.

Purpose: Age-related macular degeneration (AMD) as the leading cause of central visual loss in the developed countries has extensive pathologic similarities with Alzheimer's disease (AD). Saitohin rs62063857 Q7 R polymorphism is associated with increased risk of AD though we decided to evaluate the possible association of this polymorphism with advanced AMD.

Materials And Methods: 152 advanced AMD patients (134 wet AMD and 18 geographic atrophy) and 75 healthy controls included in this study.

Beta-Boswellic Acid and Ethanolic Extract of Olibanum Regulating the Expression Levels of and Genes.

Physiological studies confirm improvement of memory by Olibanum, a resin from species, while little is known about the molecular mechanism by which it affects memory performance. Two master transcription factors, CREB-1 and CREB-2, regulate downstream memory-related genes expression, leading to the long-term memory potentiation. This study addresses the effects of Beta-boswellic acid (β-BA), the main ingredient of Olibanum, and ethanolic extract of the resin from on the expression of and genes in B65 cell line.

Thromboxane A synthase 1 gene expression and promotor haplotypes are associated with risk of large artery-atherosclerosis stroke in Iranian population.

Large artery atherosclerosis (LAA) is known as an important cause of ischemic stroke (IS), which is a multifactorial disorder. Many candidate genes have been proposed for IS like (TBXAS1) that plays a significant role in LAA stroke pathogenesis. This is the first study on the evaluation of the association of the five single-nucleotide polymorphisms (SNPs) in TBXAS1 promoter region and the level of TBXAS1 transcript with large-artery atherosclerosis stroke.

Survival of familial adenomatous polyposis coexistence colorectal cancer in Iran.

Context: Familial adenomatous polyposis (FAP) is an autosomal dominant disorder. Colorectal cancer (CRC) has been implicated as the most common cause of death in FAP patients, especially in those with coexisting CRC at initial diagnosis (FAP-CRC).

Aim: We aimed to determine the survival rate of FAP-CRC and the factors affecting FAP-CRC survival.

Ubiquitin Associated and SH3 Domain Containing B (UBASH3B) Gene Association with Behcet's Disease in Iranian Population.

Purpose: To evaluate the possible association of UBASH3B gene rs4936742 (T > C) polymorphism with Behcet's disease (BD) and posterior uveitis in BD.

Materials And Methods: One hundred and thirty-one patients with BD (51 Behcet's posterior uveitis and 80 non-ocular Behcet's patients) and 61 unrelated age-matched healthy individuals as a control group without any inflammatory disease were selected. All BD cases were under follow-up and treatment in uveitis or rheumatology clinics for at least 5 years.

Comparison of ARMS2/LOC387715 A69S and CFH Y402H risk effect in wet-type age-related macular degeneration: a meta-analysis.

Purpose: We designed this meta-analysis to pool studies which have analyzed both CFH (Y402H or I62V) and ARMS2 A69S in the same samples to compare the effect of CFH and ARMS2 in neovascular AMD.

Methods: Relevant studies identified and reviewed separately in order to select those for inclusion. Included studies had genotype data of studied groups for both ARMS2 A69S and CFH.

Association of polymorphisms of complement factor I rs141853578 (G119R) with age-related macular degeneration in Iranian population.

Background: Age-related macular degeneration (AMD) is a complex disease, and recent studies have shown role of complement system genes in its development. Complement factor I regulates the complement pathways, and relationship between CFI polymorphisms and AMD is controversial. We evaluated the possible association of complement factor I rs141853578 (G119R) variation with advanced AMD in Iranian patients.

Interactions among different genetic loci in age-related macular degeneration.

Purpose: To evaluate the possible synergistic effect of at risk genotypes of ARMS2/LOC387715 (A69S), DNA repair SMUG1 rs3087404, CCL2-2518, C3 (R102G), CFH Y402H, complement factor B (L9H), and complement factor I (CFI) (G119R) in advanced age-related macular degeneration compared to those of healthy controls. Elucidation of synergistic effects between different genetic loci may clarify their pathogenetic pathways.

Methods: We calculated relative excess risk due to interaction (RERI), attributable proportion due to interaction (AP), and synergy index (S) to estimate the additive or supra-additive effects of the mentioned genotypes.

Novel pathogenic variants underlie SLC26A4-related hearing loss in a multiethnic cohort.

Objectives: The genetics of sensorineural hearing loss is characterized by a high degree of heterogeneity. Despite this heterogeneity, DNA variants found within SLC26A4 have been reported to be the second most common contributor after those of GJB2 in many populations.

Methods: Whole exome sequencing and/or Sanger sequencing of SLC26A4 in 117 individuals with sensorineural hearing loss with or without inner ear anomalies but not with goiter from Turkey, Iran, and Mexico were performed.

Association of ACE, VEGF and CCL2 gene polymorphisms with Henoch-Schönlein purpura and an evaluation of the possible interaction effects of these loci in HSP patients.

Background: Henoch-Schönlein purpura (HSP) is a multisystem, small vessel, leucocytoclastic vasculitis. It is predominantly a childhood vasculitis, rarely reported in adults. Studies have shown that several different genetic factors such as genes involved in inflammatory system and renin-angiotensin system (RAS) are important in the pathogenesis of Henoch-Schönlein purpura.

Association study of CTLA-4 +49A/G gene polymorphism with recurrent pregnancy loss in the Iranian Azeri Turkish ethnic group.

Background/aim: Recurrent pregnancy loss (RPL) is defined as two or more pregnancy losses. T-regulatory cells play an important role in the feto-maternal interface. Cytotoxic-T-lymphocyte antigen-4 (CTLA-4) is a molecule that downregulates the activation and proliferation of T cells.