Non-syndromic autosomal dominant hearing loss: The first italian family carrying a mutation in the NCOA3 gene
| Autor: | Rocco Pio Ortore, Maria Pina Concas, Anna Morgan, Angelantonio Notarangelo, Paola Tesolin, Michela Notarangelo, Giorgia Girotto |
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| Přispěvatelé: | Tesolin, P., Morgan, A., Notarangelo, M., Ortore, R. P., Concas, M. P., Notarangelo, A., Girotto, G. |
| Jazyk: | angličtina |
| Rok vydání: | 2021 |
| Předmět: |
Exome sequencing
NCOA3 gene Hearing loss Italian family Autosomal dominant inheritance Non-syndromic hearing loss Case Report Biology QH426-470 medicine.disease_cause 03 medical and health sciences Exon 0302 clinical medicine medicine Genetics Missense mutation Gene Genetics (clinical) 030304 developmental biology 0303 health sciences Mutation NCOA3 Gene 030220 oncology & carcinogenesis medicine.symptom Age of onset |
| Zdroj: | Genes, Vol 12, Iss 1043, p 1043 (2021) Genes |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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