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bioRxiv · 10.1101/545657

In Silico Genetics: Identification of pathogenic nsSNPs in human STAT3 gene associated with Job's syndrome

Mustafa, M. I.·Abdelmoneim, A. H.·Elfadol, N. M.·Mahmoud, T. A.·Hassan, M. A.
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Abstract

BackgroundAutosomal dominant hyper-IgE syndrome (AD-HIES) or Jobs syndrome is a rare immunodeficiesncy disease that classically presents in early childhood, characterized by eczematoid dermatitis, characteristic facies, pneumatoceles, hyperextensibility of joints, multiple bone fractures, scoliosis, atopic dermatitis and elevated levels of serum IgE (>2000 IU/ml). The term Autosomal dominant hyper-IgE syndrome has primarily been associated with mutations in STAT3 gene, Located in human chromosome 17q21. MethodsThe human STAT3 gene was investigated in dbSNP/NCBI, 962 SNPs were Homo sapiens; of which 255 were missense SNPs. This selected for in silico analysis by multiple in silico tools to investigate the effect of SNPs on STAT3 proteins structure and function. ResultEleven novel mutations out of 255 nsSNPs that are found to be deleterious effect on the STAT3 structure and function. ConclusionA total of eleven novel nsSNPs were predicted to be responsible for the structural and functional modifications of STAT3 protein. The newly recognized genetic cause of the hyper-IgE syndrome affects complex, compartmentalized somatic and immune regulation. This study will opens new doors to facilitate the development of novel diagnostic markers for associated diseases.

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Mustafa, M. I., Abdelmoneim, A. H., Elfadol, N. M., Mahmoud, T. A., Hassan, M. A.. 2019-02-10. In Silico Genetics: Identification of pathogenic nsSNPs in human STAT3 gene associated with Job's syndrome. https://doi.org/10.1101/545657

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