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TBL1Y: a new gene involved in syndromic hearing loss.

ABSTRACT: 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.

SUBMITTER: Di Stazio M

PROVIDER: S-EPMC6460559 | biostudies-literature | 2019 Mar

REPOSITORIES: biostudies-literature

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TBL1Y: a new gene involved in syndromic hearing loss.

Di Stazio Mariateresa M Collesi Chiara C Vozzi Diego D Liu Wei W Myers Mike M Morgan Anna A D Adamo Pio Adamo PA Girotto Giorgia G Rubinato Elisa E Giacca Mauro M Gasparini Paolo P

European journal of human genetics : EJHG 20181019 3

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 t ...[more]

PMID: 30341416

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