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

Neurogenetics Research Center, Instituto Nacional de Ciencias Neurológicas, Lima 15003, Peru
John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, FL 33136, USA
Dr. John T. Macdonald Foundation Department of Human Genetics, University of Miami Miller School of Medicine, Miami, FL 33136, USA
Center for Global Health, Universidad Peruana Cayetano Heredia, Lima 15102, Peru
Inter-units Program in Biotechnology, Institute of Biomedical Sciences, University of São Paulo, São Paulo 05508-270, Brazil
Centro de Investigaciones Básicas en el Área Otoneurológica, Instituto Nacional de Ciencias Neurológicas, Lima 15003, Peru
Lerner Research Institute, Genomic Medicine, Cleveland Clinic Foundation, Cleveland, OH 44195, USA
Author to whom correspondence should be addressed.
Genes 2019, 10(8), 581;
Received: 20 June 2019 / Revised: 23 July 2019 / Accepted: 30 July 2019 / Published: 31 July 2019
(This article belongs to the Special Issue Genetic Epidemiology of Deafness)
PDF [964 KB, uploaded 7 August 2019]


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. View Full-Text
Keywords: hearing loss; GJB2; non-syndromic; Peruvian hearing loss; GJB2; non-syndromic; Peruvian

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Figueroa-Ildefonso, E.; Bademci, G.; Rajabli, F.; Cornejo-Olivas, M.; Chacón Villanueva, R.D.; Badillo-Carrillo, R.; Inca-Martinez, M.; Milla Neyra, K.; Sineni, C.; Tekin, M. Identification of Main Genetic Causes Responsible for Non-Syndromic Hearing Loss in a Peruvian Population. Genes 2019, 10, 581.

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