Identification of main genetic causes responsible for non-syndromic hearing loss in a Peruvian population

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

Research output: Contribution to journalArticle

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.

Original languageEnglish (US)
Article number581
JournalGenes
Volume10
Issue number8
DOIs
StatePublished - Aug 1 2019

Fingerprint

Hearing Loss
Population
Peru
Sensation Disorders
Genome
Genes
Nonsense Codon
Exons
History
Alleles

Keywords

  • GJB2
  • Hearing loss
  • Non-syndromic
  • Peruvian

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

Cite this

Figueroa-Ildefonso, E., Bademci, G., Rajabli, F., Cornejo-Olivas, M., Villanueva, R. D. C., Badillo-Carrillo, R., ... Tekin, M. (2019). Identification of main genetic causes responsible for non-syndromic hearing loss in a Peruvian population. Genes, 10(8), [581]. https://doi.org/10.3390/genes10080581

Identification of main genetic causes responsible for non-syndromic hearing loss in a Peruvian population. / Figueroa-Ildefonso, Erick; Bademci, Guney; Rajabli, Farid; Cornejo-Olivas, Mario; Villanueva, Ruy Diego Chacón; Badillo-Carrillo, Rodolfo; Inca-Martinez, Miguel; Neyra, Karina Milla; Sineni, Claire; Tekin, Mustafa.

In: Genes, Vol. 10, No. 8, 581, 01.08.2019.

Research output: Contribution to journalArticle

Figueroa-Ildefonso, E, Bademci, G, Rajabli, F, Cornejo-Olivas, M, Villanueva, RDC, Badillo-Carrillo, R, Inca-Martinez, M, Neyra, KM, Sineni, C & Tekin, M 2019, 'Identification of main genetic causes responsible for non-syndromic hearing loss in a Peruvian population', Genes, vol. 10, no. 8, 581. https://doi.org/10.3390/genes10080581
Figueroa-Ildefonso E, Bademci G, Rajabli F, Cornejo-Olivas M, Villanueva RDC, Badillo-Carrillo R et al. Identification of main genetic causes responsible for non-syndromic hearing loss in a Peruvian population. Genes. 2019 Aug 1;10(8). 581. https://doi.org/10.3390/genes10080581
Figueroa-Ildefonso, Erick ; Bademci, Guney ; Rajabli, Farid ; Cornejo-Olivas, Mario ; Villanueva, Ruy Diego Chacón ; Badillo-Carrillo, Rodolfo ; Inca-Martinez, Miguel ; Neyra, Karina Milla ; Sineni, Claire ; Tekin, Mustafa. / Identification of main genetic causes responsible for non-syndromic hearing loss in a Peruvian population. In: Genes. 2019 ; Vol. 10, No. 8.
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