| Autor: |
Tesolin P; Department of Medicine, Surgery and Health Sciences, University of Trieste, 34127 Trieste, Italy., Morgan A; Institute for Maternal and Child Health-I.R.C.C.S. 'Burlo Garofolo', 34137 Trieste, Italy., Notarangelo M; Department of Cellular, Computational and Integrative Biology (CIBIO), University of Trento, 38123 Trento, Italy., Ortore RP; UOC Otolaryngology, Institute I.R.C.C.S. 'Casa Sollievo della Sofferenza', 71013 San Giovanni Rotondo, Italy., Concas MP; Institute for Maternal and Child Health-I.R.C.C.S. 'Burlo Garofolo', 34137 Trieste, Italy., Notarangelo A; UOC Medical Genetics, Institute I.R.C.C.S. 'Casa Sollievo della Sofferenza', 71013 San Giovanni Rotondo, Italy., Girotto G; Department of Medicine, Surgery and Health Sciences, University of Trieste, 34127 Trieste, Italy.; Institute for Maternal and Child Health-I.R.C.C.S. 'Burlo Garofolo', 34137 Trieste, Italy. |
| Abstrakt: |
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. |
