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The Genetic Perspective of Familial Glucocorticoid Deficiency: In Silico Analysis of Two Novel Variants
المؤلفون المشاركون
Heshmatzad, Katayoun
Mahdieh, Nejat
Rabbani, Ali
Didban, Abdolah
Rabbani, Bahareh
المصدر
International Journal of Endocrinology
العدد
المجلد 2020، العدد 2020 (31 ديسمبر/كانون الأول 2020)، ص ص. 1-8، 8ص.
الناشر
Hindawi Publishing Corporation
تاريخ النشر
2020-09-01
دولة النشر
مصر
عدد الصفحات
8
التخصصات الرئيسية
الملخص EN
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.
نمط استشهاد جمعية علماء النفس الأمريكية (APA)
Heshmatzad, Katayoun& Mahdieh, Nejat& Rabbani, Ali& Didban, Abdolah& Rabbani, Bahareh. 2020. The Genetic Perspective of Familial Glucocorticoid Deficiency: In Silico Analysis of Two Novel Variants. International Journal of Endocrinology،Vol. 2020, no. 2020, pp.1-8.
https://search.emarefa.net/detail/BIM-1170153
نمط استشهاد الجمعية الأمريكية للغات الحديثة (MLA)
Heshmatzad, Katayoun…[et al.]. The Genetic Perspective of Familial Glucocorticoid Deficiency: In Silico Analysis of Two Novel Variants. International Journal of Endocrinology No. 2020 (2020), pp.1-8.
https://search.emarefa.net/detail/BIM-1170153
نمط استشهاد الجمعية الطبية الأمريكية (AMA)
Heshmatzad, Katayoun& Mahdieh, Nejat& Rabbani, Ali& Didban, Abdolah& Rabbani, Bahareh. The Genetic Perspective of Familial Glucocorticoid Deficiency: In Silico Analysis of Two Novel Variants. International Journal of Endocrinology. 2020. Vol. 2020, no. 2020, pp.1-8.
https://search.emarefa.net/detail/BIM-1170153
نوع البيانات
مقالات
لغة النص
الإنجليزية
الملاحظات
Includes bibliographical references
رقم السجل
BIM-1170153
قاعدة معامل التأثير والاستشهادات المرجعية العربي "ارسيف Arcif"
أضخم قاعدة بيانات عربية للاستشهادات المرجعية للمجلات العلمية المحكمة الصادرة في العالم العربي
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