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| Monogenic hearing loss v2.149 | NCOA3 |
Eleanor Williams gene: NCOA3 was added gene: NCOA3 was added to Hearing loss. Sources: Literature Mode of inheritance for gene: NCOA3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: NCOA3 were set to 33326993 Phenotypes for gene: NCOA3 were set to non-syndromic hearing loss Review for gene: NCOA3 was set to RED Added comment: PMID: 33326993 - Salazar da Silva et al 2020 - report a 5 generation Brazilian family with 15 individuals with non-syndromic, bilateral and progressive hearing loss. Using linkage analysis and then exome sequencing they identified a heterozygous variant in NCOA3 (NM_181659, c.2810C > G; p.Ser937Cys) that was found in the 7 analysed affected individuals. It was also found in 4 unaffected individuals but they are within the range of onset of hearing loss observed in the family. Expression of nco3 was found in the inner ear of mice and zebrafish. ncoa3-/- zebrafish showed subtle alterations in cartilage, mineral density and abnormal adult swimming behaviour, which may suggest the mechanism of pathogenicity. Sources: Literature |
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