TBL1Y: a new gene involved in syndromic hearing loss

Di Stazio, MariateresaUniv Trieste, Dept Med Surg & Hlth Sci, Trieste, Italy (author)

TBL1Y : a new gene involved in syndromic hearing loss

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.

Collesi, ChiaraUniv Trieste, Dept Med Surg & Hlth Sci, Trieste, Italy;Int Ctr Genet Engn & Biotechnol ICGEB, Mol Med Lab, I-34149 Trieste, Italy (author)
Vozzi, DiegoIRCCS Burlo Garofolo, Med Genet, Trieste, Italy;Qatar Fdn, Sidra Med & Res Ctr, Div Expt Genet, POB 26999, Doha, Qatar (author)
Liu, WeiUppsala universitet,Öron-, näs- och halssjukdomar(Swepub:uu)weili662 (author)
Myers, MikeInt Ctr Genet Engn & Biotechnol ICGEB, Mol Med Lab, I-34149 Trieste, Italy (author)
Morgan, AnnaUniv Trieste, Dept Med Surg & Hlth Sci, Trieste, Italy (author)
D' Adamo, Pio AdamoUniv Trieste, Dept Med Surg & Hlth Sci, Trieste, Italy (author)
Girotto, GiorgiaUniv Trieste, Dept Med Surg & Hlth Sci, Trieste, Italy (author)
Rubinato, ElisaUniv Trieste, Dept Med Surg & Hlth Sci, Trieste, Italy (author)
Giacca, MauroUniv Trieste, Dept Med Surg & Hlth Sci, Trieste, Italy;Int Ctr Genet Engn & Biotechnol ICGEB, Mol Med Lab, I-34149 Trieste, Italy (author)
Gasparini, PaoloUniv Trieste, Dept Med Surg & Hlth Sci, Trieste, Italy (author)
Univ Trieste, Dept Med Surg & Hlth Sci, Trieste, ItalyUniv Trieste, Dept Med Surg & Hlth Sci, Trieste, Italy;Int Ctr Genet Engn & Biotechnol ICGEB, Mol Med Lab, I-34149 Trieste, Italy (creator_code:org_t)

In:European Journal of Human Genetics: NATURE PUBLISHING GROUP27:3, s. 466-4741018-48131476-5438

By the author/editor: Di Stazio, Maria ...; Collesi, Chiara; Vozzi, Diego; Liu, Wei; Myers, Mike; Morgan, Anna; show more...; D' Adamo, Pio Ad ...; Girotto, Giorgia; Rubinato, Elisa; Giacca, Mauro; Gasparini, Paolo; show less...

About the subject

MEDICAL AND HEALTH SCIENCES: MEDICAL AND HEAL ...; and Basic Medicine; and Medical Genetics

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