The Genetic Perspective of Familial Glucocorticoid Deficiency: In Silico Analysis of Two Novel Variants
Rattachement africain : ir. Niveau de preuve : code pays fourni par la source.
Le résumé fourni par la source
Familial glucocorticoid deficiency is a rare autosomal recessive genetic disorder which belongs to a group of primary adrenal insufficiency (PAI) and is mainly caused by mutations in the MC2R and MRAP genes. A comprehensive search was conducted to find the reported variants of MC2R and MRAP genes. In silico pathogenic analysis was performed for the reported variants. PCR amplification and sequencing were performed for three patients. Structural analysis, modeling, and interactome analysis were applied to characterize novel MC2R variants and their proteins. About 80% of MC2R-related cases showed the clinical symptoms which were diagnosed at <2 years old. 107 patients had MC2R mutations (85 homozygotes, 21 compound heterozygotes, and 1 simple heterozygote). 59 variants were found in the MC2R gene. Four mutations were responsible for half of patients. 39 homozygous patients had MRAP mutations; 14 variants were determined in the MRAP gene. Nine proteins were predicted by STRING to associate with the studied proteins. Two novel MC2R variants, c.128T > G (p.Leu43Arg) and c.251T > A (p.Ile84Asn), were found in two patients at the age of above and below 2 years, respectively. Mutations in MC2R and MRAP genes are the main cause of FGD. Genetic studies and in silico analysis will help to confirm the diagnosis.
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Le contrôle bibliographique ouvert
DOI retrouvé dans Crossref DOI retrouvé, mais le titre doit être comparé manuellement.
- Titre Crossref
- The Genetic Perspective of Familial Glucocorticoid Deficiency: <i>In Silico</i> Analysis of Two Novel Variants
- Date Crossref
- 01/09/2020
- Éditeur
- Wiley
- Type
- journal-article
Ce recoupement confirme des métadonnées liées au DOI. Il ne confirme ni la méthode ni les conclusions de l’étude, et il ne compte pas comme une seconde source scientifique indépendante.
Où se fait cette recherche
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Tehran University of Medical Sciences Growth and Development Research Center pays non établi dans la noticeUniversité ou école supérieure
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Iran University of Medical Sciences Rajaie Cardiovascular Medical and Research Center pays non établi dans la noticeUniversité ou école supérieure
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Shaheed Rajaei Cardiovascular Medical and Research Center pays non établi dans la noticeÉtablissement de santé
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Qazvin University of Medical Sciences Department of Pediatrics pays non établi dans la noticeUniversité ou école supérieure
Growth and Development Research Center — Tehran University of Medical Sciences, Rajaie Cardiovascular Medical and Research Center — Iran University of Medical Sciences et Shaheed Rajaei Cardiovascular Medical and Research Center, avec 1 autre affiliation.
Une affiliation ne permet pas de déduire la nationalité d’un auteur.