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

Cornejo-Olivas, Mario; Tekin, Mustafa; Villanueva, Ruy Diego Chacon; Sineni, Claire; Badillo-Carrillo, Rodolfo; Inca-Martinez, Miguel; Bademci, Guney; Neyra, Karina Milla; Figueroa Ildefonso, Erick Gianpierre; Rajabli, Farid

dc.contributor.author	Figueroa Ildefonso, Erick Gianpierre
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.ispartofseries	Genes
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#1.06.07
dc.relation.issn	2073-4425

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

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