A novel de novo frameshift variant in the CHD2 gene related to intellectual and developmental disability, seizures and speech problems.

Background: The chromodomain helicase DNA-binding protein 2 (CHD2) is a member of the ATP-dependent chromatin remodelling family of proteins, which are critical for the assembly and regulation of chromatin. De novo variants and deletions in the CHD2 gene have been associated with childhood-onset developmental and epileptic encephalopathies type 94 (DEE 94). This study reports a novel deleterious de novo heterozygous frameshift insertion variant in the CHD2 gene.

Possible role of pannexin 1 channels and purinergic receptors in the pathogenesis and mechanism of action of SARS-CoV-2 and therapeutic potential of targeting them in COVID-19.

Identifying signaling pathways and molecules involved in SARS-CoV-2 pathogenesis is pivotal for developing new effective therapeutic or preventive strategies for COVID-19. Pannexins (PANX) are ATP-release channels in the plasma membrane essential in many physiological and immune responses. Activation of pannexin channels and downstream purinergic receptors play dual roles in viral infection, either by facilitating viral replication and infection or inducing host antiviral defense.

Association Study between Functional Polymorphisms of Gene Promoter and Multiple Sclerosis Susceptibility in an Iranian Population.

Background: Matrix metalloproteinase-9 () polymorphisms, C-1562 T and -90 (CA) n repeats, which influence transcriptional activity of this gene, are proposed to play a role in MS susceptibility and its development. In the present study, the possible association of polymorphisms in Iranian MS patients is studied.

Methods: Association of mentioned gene polymorphisms with MS susceptibility was evaluated in unrelated Iranian subjects referred to Al-Zahra Hospital, Isfahan, Iran during 2014 to 2017.

UGT1A1 gene linkage analysis: application of polymorphic markers rs4148326/rs4124874 in the Iranian population.

Objectives: Mutations in the UGT1A1 gene are responsible for hyperbilirubinemia syndromes including Crigler-Najjar type 1 and 2 and Gilbert syndrome. In view of the genetic heterogeneity and involvement of large numbers of the disease causing mutations, the application of polymorphic markers in the UGTA1 gene could be useful in molecular diagnosis of the disease.

Materials And Methods: In the present study, two polymorphic markers including rs4148326 and rs4124874 in the UGT1A1 gene region were characterized.

[Significant association between nonsyndromic cleft lip with or without cleft palate and IRF6rs2235371 polymorphism in Iranian familiar population].

According to previous studies the IRF6rs2235371 polymorphism is a risk factor for NSCL/P in different populations. However our recent study revealed no correlation between IRF6rs642961 and NSCL/P in our population. In the present study we have investigated the relationship between IRF6rs2235371 and NSCL/P in same group to determine whether IRF6rs2235371 is a risk factor in our population as well.

Mutation spectrum of autosomal recessive non-syndromic hearing loss in central Iran.

Objective: To identify the spectrum of mutations in connexin 26 gene and frequency of two deletions in connexin 30 gene in central Iran.

Methods: After extraction of DNA from 300 blood samples, connexin 26 gene coding region was amplified using specific primers. PCR products were used for bidirectional sequencing.

Parental age-related risk of retinoblastoma in Iranian children.

Background: Retinoblastoma is a rare malignant intraocular neoplasm. About 90% of cases feature a germline mutation in the RB1 gene and these will develop retinoblastoma during their early childhood. An association between mutations in germline cells and aging has been demonstrated.