TBL1Y: a new gene involved in syndromic hearing loss

Mariateresa Di Stazio, Chiara Collesi, Diego Vozzi, Wei Liu, Mike Myers, Anna Morgan, Pio Adamo D Adamo, Giorgia Girotto, Elisa Rubinato, Mauro Giacca, Paolo Gasparini

Research output: Contribution to journalArticlepeer-review

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.
Original languageEnglish
Pages (from-to)466-474
Number of pages9
JournalEuropean Journal of Human Genetics
Volume27
Issue number3
DOIs
Publication statusPublished - Mar 2019

Keywords

  • Adolescent
  • Adult
  • Aged
  • Aged, 80 and over
  • Cochlea/metabolism
  • Female
  • Genetic Diseases, Y-Linked/*genetics/pathology
  • Hearing Loss/*genetics/pathology
  • Humans
  • Male
  • Middle Aged
  • Mutation, Missense
  • Pedigree
  • Prostate/metabolism
  • Prostatic Hyperplasia/*genetics/pathology
  • Protein Stability
  • Syndrome
  • Transducin/*genetics/metabolism

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