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TBL1Y: a new gene involved in syndromic hearing loss

2018; Springer Nature; Volume: 27; Issue: 3 Linguagem: Inglês

10.1038/s41431-018-0282-4

1476-5438

Mariateresa Di Stazio, Chiara Collesi, Diego Vozzi, Wei Liu, Mike Myers, Anna Morgan, Pio D’Adamo, Giorgia Girotto, Elisa Rubinato, Mauro Giacca, Paolo Gasparini,

Congenital heart defects research

Hereditary hearing loss (HHL) is an extremely heterogeneous disorder with autosomal dominant, recessive, and X-linked forms. Here, we described an Italian pedigree affected by HHL but also prostate hyperplasia and increased ratio of the free/total PSA levels, with the unusual and extremely rare Y-linked pattern of inheritance. Using exome sequencing we found a missense variant (r.206A>T leading to p.Asp69Val) in the TBL1Y gene. TBL1Y is homologous of TBL1X, whose partial deletion has described to be involved in X-linked hearing loss. Here, we demonstrate that it has a restricted expression in adult human cochlea and prostate and the variant identified induces a lower protein stability caused by misfolded mutated protein that impairs its cellular function. These findings indicate that TBL1Y could be considered a novel candidate for HHL.