Comprehensive functional network analysis and screening of deleterious pathogenic variants in non-syndromic hearing loss causative genes

• Published in: Bioscience reports Vol. 41; no. 10; p. 1
• Main Authors: Ray, Manisha, Sarkar, Saurav, Sable, Mukund Namdev
• Format: Journal Article
• Language: English
• Published: England Portland Press Ltd The Biochemical Society 29.10.2021; Portland Press Ltd
• Subjects: Bioinformatics; Biological activity; Cancer; Databases, Genetic; Deafness - diagnosis; Deafness - genetics; Deafness - physiopathology; Epidemiology; Fibroblast growth factor receptor 1; Fibroblast growth factor receptor 2; Gene pool; Gene Regulatory Networks; Genes; Genetic analysis; Genetic Markers; Genetic Predisposition to Disease; Hearing; Hearing - genetics; Hearing loss; Hearing protection; Humans; Immunology & Inflammation; Medical Subject Headings-MeSH; Morphogenesis; Mutation; Network analysis; Nucleotides; Pathogenesis; Phenotype; Polymorphism, Single Nucleotide; Potassium; Predictive Value of Tests; Protein Interaction Maps; Proteins; Public health; Risk Assessment; Risk Factors; Sensory perception; Signal Transduction; Single-nucleotide polymorphism; Systematic review; Systems Biology & Networks; Genetics; In silico; Single nucleotide polymorphism; Non-syndromic hearing loss; Functional network
• ISSN: 0144-8463; 1573-4935; 1573-4935
• DOI: 10.1042/BSR20211865

Hearing loss (HL) is a significant public health problem and causes the most frequent congenital disability in developed societies. The genetic analysis of non-syndromic hearing loss (NSHL) may be considered as a complement to the existent plethora of diagnostic modalities available. The present study focuses on exploring more target genes with respective non-synonymous single nucleotide polymorphisms (nsSNPs) involved in the development of NSHL. The functional network analysis and variant study have successfully been carried out from the gene pool retrieved from reported research articles of the last decade. The analyses have been done through STRING. According to predicted biological processes, various variant analysis tools have successfully classified the NSHL causative genes and identified the deleterious nsSNPs, respectively. Among the predicted pathogenic nsSNPs with rsIDs rs80356586 (I515T), rs80356596 (L1011P), rs80356606 (P1987R) in OTOF have been reported in NSHL earlier. The rs121909642 (P722S), rs267606805 (P722H) in FGFR1, rs121918506 (E565A) and rs121918509 (A628T, A629T) in FGFR2 have not been reported in NSHL yet, which should be clinically experimented in NSHL. This also indicates this variant’s novelty as its association in NSHL. The findings and the analyzed data have delivered some vibrant genetic pathogenesis of NSHL. These data might be used in the diagnostic and prognostic purposes in non-syndromic congenitally deaf children.