Eleanor Williams changed review comment from: PMID: 23840632 - Song et al 2013 - analysed EYA1, SIX1 and SIX5 in 7 families (10 patients) with typical BOR/BO syndrome, while one patient exhibited only mixed type of hearing loss and inner ear anomalies. One missense and three splice site mutations were identified in EYA1, while no mutations were found in either SIX1 or SIX5 gene; to: PMID: 23840632 - Song et al 2013 - analysed EYA1, SIX1 and SIX5 in 7 families (10 patients) - all with typical BOR/BO syndrome, except for one patient who exhibited only mixed type of hearing loss and inner ear anomalies. One missense and three splice site mutations were identified in EYA1, while no mutations were found in either SIX1 or SIX5 gene
Eleanor Williams reviewed gene: EYA1: Rating: ; Mode of pathogenicity: None; Publications: 23840632; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown