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TBL1Y :
TBL1Y : a new gene involved in syndromic hearing loss
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- Di Stazio, Mariateresa (author)
- Univ Trieste, Dept Med Surg & Hlth Sci, Trieste, Italy
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- Collesi, Chiara (author)
- Univ Trieste, Dept Med Surg & Hlth Sci, Trieste, Italy;Int Ctr Genet Engn & Biotechnol ICGEB, Mol Med Lab, I-34149 Trieste, Italy
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- Vozzi, Diego (author)
- IRCCS Burlo Garofolo, Med Genet, Trieste, Italy;Qatar Fdn, Sidra Med & Res Ctr, Div Expt Genet, POB 26999, Doha, Qatar
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- Liu, Wei (author)
- Uppsala universitet,Öron-, näs- och halssjukdomar
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- Myers, Mike (author)
- Int Ctr Genet Engn & Biotechnol ICGEB, Mol Med Lab, I-34149 Trieste, Italy
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- Morgan, Anna (author)
- Univ Trieste, Dept Med Surg & Hlth Sci, Trieste, Italy
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- D' Adamo, Pio Adamo (author)
- Univ Trieste, Dept Med Surg & Hlth Sci, Trieste, Italy
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- Girotto, Giorgia (author)
- Univ Trieste, Dept Med Surg & Hlth Sci, Trieste, Italy
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- Rubinato, Elisa (author)
- Univ Trieste, Dept Med Surg & Hlth Sci, Trieste, Italy
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- Giacca, Mauro (author)
- Univ Trieste, Dept Med Surg & Hlth Sci, Trieste, Italy;Int Ctr Genet Engn & Biotechnol ICGEB, Mol Med Lab, I-34149 Trieste, Italy
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- Gasparini, Paolo (author)
- Univ Trieste, Dept Med Surg & Hlth Sci, Trieste, Italy
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(creator_code:org_t)
- 2018-10-19
- 2019
- English.
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In: European Journal of Human Genetics. - : NATURE PUBLISHING GROUP. - 1018-4813 .- 1476-5438. ; 27:3, s. 466-474
- Related links:
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https://www.nature.c...
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https://urn.kb.se/re...
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https://doi.org/10.1...
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Abstract
Subject headings
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- 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.
Subject headings
- MEDICIN OCH HÄLSOVETENSKAP -- Medicinska och farmaceutiska grundvetenskaper -- Medicinsk genetik (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Basic Medicine -- Medical Genetics (hsv//eng)
Publication and Content Type
- ref (subject category)
- art (subject category)
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To the university's database
- By the author/editor
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Di Stazio, Maria ...
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Collesi, Chiara
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Vozzi, Diego
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Liu, Wei
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Myers, Mike
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Morgan, Anna
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show more...
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D' Adamo, Pio Ad ...
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Girotto, Giorgia
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Rubinato, Elisa
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Giacca, Mauro
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Gasparini, Paolo
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show less...
- About the subject
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- MEDICAL AND HEALTH SCIENCES
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MEDICAL AND HEAL ...
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and Basic Medicine
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and Medical Genetics
- Articles in the publication
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European Journal ...
- By the university
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Uppsala University