A Novel p.Tyr129His Variant in SIX1 Leads to Dominant,Delayed-onset Hearing Loss with Possible Association with Congenital Anosmia

摘要

SIX1(OMIM 601205),as a member of the SIX homeobox transcription factor family,belongs to homologs of the Drosophila‘sine oculis’gene that expresses primarily in the developing visual system of the fly.The SIX family includes six members(SIX1–SIX6),which share a homologous DNA-binding homeodomain(HD)and a highly conserved protein–protein interacting SIX domain(SD)[1].