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Identification of Main Genetic Causes Responsible for Non-Syndromic Hearing Loss in a Peruvian Population

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dc.contributor.author Figueroa-Ildefonso, Erick
dc.contributor.author Bademci, Guney
dc.contributor.author Rajabli, Farid
dc.contributor.author Cornejo-Olivas, Mario
dc.contributor.author Villanueva, Ruy Diego Chacon
dc.contributor.author Badillo-Carrillo, Rodolfo
dc.contributor.author Inca-Martinez, Miguel
dc.contributor.author Neyra, Karina Milla
dc.contributor.author Sineni, Claire
dc.contributor.author Tekin, Mustafa
dc.date.accessioned 2019-08-08T15:23:45Z
dc.date.available 2019-08-08T15:23:45Z
dc.date.issued 2019
dc.identifier.uri https://hdl.handle.net/20.500.12866/7139
dc.description.abstract Hearing loss (HL) is a common sensory disorder affecting over 5% of the global population. The etiology underlying HL includes congenital and acquired causes; genetic factors are the main cause in over 50% of congenital cases. Pathogenic variants in the GJB2 gene are a major cause of congenital non-syndromic hearing loss (NSHL), while their distribution is highly heterogeneous in different populations. To the best of our knowledge, there is no data regarding the genetic etiologies of HL in Peru. In this study, we screened 133 Peruvian families with NSHL living in Lima. We sequenced both exons of the GJB2 gene for all probands. Seven probands with familial NSHL that remained negative for GJB2 variants underwent whole genome sequencing (WGS). We identified biallelic pathogenic variants in GJB2 in 43 probands; seven were heterozygous for only one allele. The c.427C>T variant was the most common pathogenic variant followed by the c.35delG variant. WGS revealed three novel variants in MYO15A in two probands, one of them was predicted to affect splicing and the others produce a premature stop codon. The Peruvian population showed a complex profile for genetic variants in the GJB2 gene, this particular profile might be a consequence of the admixture history in Peru. en_US
dc.language.iso eng
dc.publisher MDPI
dc.relation.ispartof urn:issn:2073-4425
dc.rights info:eu-repo/semantics/restrictedAccess
dc.rights.uri https://creativecommons.org/licenses/by-nc-nd/4.0/deed.es
dc.subject GJB2 en_US
dc.subject hearing loss en_US
dc.subject non-syndromic en_US
dc.subject Peruvian en_US
dc.subject allele en_US
dc.subject amino acid substitution en_US
dc.subject Article en_US
dc.subject child en_US
dc.subject cohort analysis en_US
dc.subject connexin 26 en_US
dc.subject controlled study en_US
dc.subject cysteine en_US
dc.subject exon en_US
dc.subject female en_US
dc.subject gene en_US
dc.subject gene deletion en_US
dc.subject gene sequence en_US
dc.subject genetic identification en_US
dc.subject genetic screening en_US
dc.subject genetic variability en_US
dc.subject GJB2 en_US
dc.subject GJB2 gene en_US
dc.subject hearing impairment en_US
dc.subject Hearing loss en_US
dc.subject heredity en_US
dc.subject heterozygosity en_US
dc.subject human en_US
dc.subject major clinical study en_US
dc.subject male en_US
dc.subject MYO15A gene en_US
dc.subject non syndromic hearing loss en_US
dc.subject Non-syndromic en_US
dc.subject Peruvian en_US
dc.subject population genetics en_US
dc.subject prediction en_US
dc.subject stop codon en_US
dc.subject threonine en_US
dc.subject whole genome sequencing en_US
dc.title Identification of Main Genetic Causes Responsible for Non-Syndromic Hearing Loss in a Peruvian Population en_US
dc.type info:eu-repo/semantics/article
dc.identifier.doi https://doi.org/10.3390/genes10080581
dc.subject.ocde https://purl.org/pe-repo/ocde/ford#3.02.00 es_PE
dc.subject.ocde https://purl.org/pe-repo/ocde/ford#1.06.07


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