Biological sciences
Saeed Dorgaleleh; Karim Naghipoor; Teymoor Khosravi; Amin Tadayoni Nia; Elham Sheikhi Ghayur; Hamayon abdul Aziz; Morteza Oladnabi
Abstract
Mutations in Ataxia-Telangiectasia Mutated (ATM) gene are prominently responsible for the condition. ATM gene encodes a serine/threonine protein kinase, a crucial component in DNA repair systems. Whole exome sequencing was performed on a nine year old male subject with clinical features of A-T. Alpha ...
Read More
Mutations in Ataxia-Telangiectasia Mutated (ATM) gene are prominently responsible for the condition. ATM gene encodes a serine/threonine protein kinase, a crucial component in DNA repair systems. Whole exome sequencing was performed on a nine year old male subject with clinical features of A-T. Alpha fetoprotein and immunoglobulins levels in the serum sample were also measured by biochemical testing. Sequencing test revealed c.7456C>T (p.Arg2486X) mutation in exon 50 of ATM gene in this patient. This mutation was previously described as a missense pathogenic variant that could lead to truncation or lack of protein.
Biological sciences
Saeed Dorgaleleh; Karim naghipoor; Morteza Oladnabi
Abstract
Ectodermal dysplasia (ED) is a rare heterogeneous disorder. Defects in the development of the ectoderm cause symptoms in tissues derived from the ectoderm layer such as skin, nails and hair. One of the genes involved in ED is Nuclear Factor Kappa-B (NF-κB) that mutation in this gene causes immunodeficiency. ...
Read More
Ectodermal dysplasia (ED) is a rare heterogeneous disorder. Defects in the development of the ectoderm cause symptoms in tissues derived from the ectoderm layer such as skin, nails and hair. One of the genes involved in ED is Nuclear Factor Kappa-B (NF-κB) that mutation in this gene causes immunodeficiency. There are also some ED subgroups such as X-Link Hypohidrotic Ectodermal Dysplasia (XLHED) at risk of severe pneumonia and respiratory infections. The patients with ED due to the susceptibility of the immune system defect as well as the respiratory system, we hypothesized that these patients are sensitive to COVID -19. So the main organ involved in the respiratory system and the main cause of mortality in patients with COVID-19 is the respiratory system involvement. Therefore, they are at higher risk of developing symptomatic COVID-19 that requires further clinical care.
Biological sciences
Saeed Dorgaleleh; Zahra Toutounchi; Mahsa Soltani; Karim naghipoor; Morteza Oladnabi
Abstract
Ectodermal dysplasia (ED) is a genetic disorder which is characterized by deficient tissues from ectoderm and mesoderm. In this systematic review, two researchers searched keywords such as Ectodermal Dysplasia and Hypohidrotic Ectodermal Dysplasia (HED) in Medline (PubMed), Scopus, and Web of Science ...
Read More
Ectodermal dysplasia (ED) is a genetic disorder which is characterized by deficient tissues from ectoderm and mesoderm. In this systematic review, two researchers searched keywords such as Ectodermal Dysplasia and Hypohidrotic Ectodermal Dysplasia (HED) in Medline (PubMed), Scopus, and Web of Science databases were searched until June 2020. In the first search 885 articles were found. After including and excluding criteria, included articles were reduced to 53 in Scopus, 11 in Web of Science, and 11 in PubMed. The point is that out of 75 selected studies, 52 articles were identified the cause of infection in ectodermal dysplasia as mutations in the NEMO gene and its subsets.
