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  • 1.
    Di Stazio, Mariateresa
    et al.
    Univ Trieste, Dept Med Surg & Hlth Sci, Trieste, Italy.
    Collesi, Chiara
    Univ Trieste, Dept Med Surg & Hlth Sci, Trieste, Italy;Int Ctr Genet Engn & Biotechnol ICGEB, Mol Med Lab, I-34149 Trieste, Italy.
    Vozzi, Diego
    IRCCS Burlo Garofolo, Med Genet, Trieste, Italy;Qatar Fdn, Sidra Med & Res Ctr, Div Expt Genet, POB 26999, Doha, Qatar.
    Liu, Wei
    Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Surgical Sciences, Otolaryngology and Head and Neck Surgery.
    Myers, Mike
    Int Ctr Genet Engn & Biotechnol ICGEB, Mol Med Lab, I-34149 Trieste, Italy.
    Morgan, Anna
    Univ Trieste, Dept Med Surg & Hlth Sci, Trieste, Italy.
    D' Adamo, Pio Adamo
    Univ Trieste, Dept Med Surg & Hlth Sci, Trieste, Italy.
    Girotto, Giorgia
    Univ Trieste, Dept Med Surg & Hlth Sci, Trieste, Italy.
    Rubinato, Elisa
    Univ Trieste, Dept Med Surg & Hlth Sci, Trieste, Italy.
    Giacca, Mauro
    Univ Trieste, Dept Med Surg & Hlth Sci, Trieste, Italy;Int Ctr Genet Engn & Biotechnol ICGEB, Mol Med Lab, I-34149 Trieste, Italy.
    Gasparini, Paolo
    Univ Trieste, Dept Med Surg & Hlth Sci, Trieste, Italy.
    TBL1Y: a new gene involved in syndromic hearing loss2019In: European Journal of Human Genetics, ISSN 1018-4813, E-ISSN 1476-5438, Vol. 27, no 3, p. 466-474Article in journal (Refereed)
    Abstract [en]

    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.

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