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TBL1Y: a new gene involved in syndromic hearing loss
Univ Trieste, Dept Med Surg & Hlth Sci, Trieste, Italy.
Univ Trieste, Dept Med Surg & Hlth Sci, Trieste, Italy;Int Ctr Genet Engn & Biotechnol ICGEB, Mol Med Lab, I-34149 Trieste, Italy.
IRCCS Burlo Garofolo, Med Genet, Trieste, Italy;Qatar Fdn, Sidra Med & Res Ctr, Div Expt Genet, POB 26999, Doha, Qatar.
Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Surgical Sciences, Otolaryngology and Head and Neck Surgery.
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2019 (English)In: European Journal of Human Genetics, ISSN 1018-4813, E-ISSN 1476-5438, Vol. 27, no 3, p. 466-474Article in journal (Refereed) Published
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.

Place, publisher, year, edition, pages
NATURE PUBLISHING GROUP , 2019. Vol. 27, no 3, p. 466-474
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Medical Genetics
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URN: urn:nbn:se:uu:diva-378630DOI: 10.1038/s41431-018-0282-4ISI: 000458626500016PubMedID: 30341416OAI: oai:DiVA.org:uu-378630DiVA, id: diva2:1295427
Available from: 2019-03-11 Created: 2019-03-11 Last updated: 2019-03-11Bibliographically approved

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