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Case Report

Non-Syndromic Autosomal Dominant Hearing Loss: The First Italian Family Carrying a Mutation in the NCOA3 Gene

1
Department of Medicine, Surgery and Health Sciences, University of Trieste, 34127 Trieste, Italy
2
Institute for Maternal and Child Health—I.R.C.C.S. “Burlo Garofolo”, 34137 Trieste, Italy
3
Department of Cellular, Computational and Integrative Biology (CIBIO), University of Trento, 38123 Trento, Italy
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UOC Otolaryngology, Institute I.R.C.C.S. “Casa Sollievo della Sofferenza”, 71013 San Giovanni Rotondo, Italy
5
UOC Medical Genetics, Institute I.R.C.C.S. “Casa Sollievo della Sofferenza”, 71013 San Giovanni Rotondo, Italy
*
Author to whom correspondence should be addressed.
Academic Editor: Regie Santos-Cortez
Genes 2021, 12(7), 1043; https://doi.org/10.3390/genes12071043
Received: 8 June 2021 / Revised: 1 July 2021 / Accepted: 2 July 2021 / Published: 6 July 2021
(This article belongs to the Special Issue Genetics and Epigenetics of Hearing Loss)
Hearing loss (HL) is the most frequent sensory disorder, affecting about 1–3 per 1000 live births, with more than half of the cases attributable to genetic causes. Despite the fact that many HL causative genes have already been identified, current genetic tests fail to provide a diagnosis for about 40% of the patients, suggesting that other causes still need to be discovered. Here, we describe a four-generation Italian family affected by autosomal dominant non-syndromic hearing loss (ADNSHL), in which exome sequencing revealed a likely pathogenic variant in NCOA3 (NM_181659.3, c.2909G>C, p.(Gly970Ala)), a gene recently described as a novel candidate for ADNSHL in a Brazilian family. A comparison between the two families highlighted a series of similarities: both the identified variants are missense, localized in exon 15 of the NCOA3 gene and lead to a similar clinical phenotype, with non-syndromic, sensorineural, bilateral, moderate to profound hearing loss, with a variable age of onset. Our findings (i.e., the identification of the second family reported globally with HL caused by a variant in NCOA3) further support the involvement of NCOA3 in the etiopathogenesis of ADNSHL, which should, thus, be considered as a new gene for autosomal dominant non-syndromic hearing loss. View Full-Text
Keywords: non-syndromic hearing loss; NCOA3 gene; exome sequencing; Italian family; autosomal dominant inheritance non-syndromic hearing loss; NCOA3 gene; exome sequencing; Italian family; autosomal dominant inheritance
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MDPI and ACS Style

Tesolin, P.; Morgan, A.; Notarangelo, M.; Ortore, R.P.; Concas, M.P.; Notarangelo, A.; Girotto, G. Non-Syndromic Autosomal Dominant Hearing Loss: The First Italian Family Carrying a Mutation in the NCOA3 Gene. Genes 2021, 12, 1043. https://doi.org/10.3390/genes12071043

AMA Style

Tesolin P, Morgan A, Notarangelo M, Ortore RP, Concas MP, Notarangelo A, Girotto G. Non-Syndromic Autosomal Dominant Hearing Loss: The First Italian Family Carrying a Mutation in the NCOA3 Gene. Genes. 2021; 12(7):1043. https://doi.org/10.3390/genes12071043

Chicago/Turabian Style

Tesolin, Paola, Anna Morgan, Michela Notarangelo, Rocco P. Ortore, Maria P. Concas, Angelantonio Notarangelo, and Giorgia Girotto. 2021. "Non-Syndromic Autosomal Dominant Hearing Loss: The First Italian Family Carrying a Mutation in the NCOA3 Gene" Genes 12, no. 7: 1043. https://doi.org/10.3390/genes12071043

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