Advances in Research on Hereditary Deafness Caused by LMX1A Mutations
HOU Yuan
SHI Yuanzhen
DUAN Shihong
Abstract：LMX1A is one of the LIM homeobox gene family,encoding the LIM homeobox transcription factor,which is a critical regulator for many cell-fate decisions and organ formation,and plays an important role in the structur-al formation of the inner ear.The gene contains two LIM domains and one LIM homeodomain.The LIM domains medi-ate protein-protein interactions,and the LIM homeodomain is associated with DNA binding.The gene is genetically pleiotropic and different mutations can lead to autosomal dominant/recessive inherited deafness with variable clinical manifestations,including severe to profound hearing loss,progressive hearing loss and other different hearing pheno-types,and accompanied by vestibular dysfunction in some patients.Haploinsufficiency is the main cause of deafness caused by LMX1A mutation,and the downregulation of LMX1A expression will affect the development of the inner ear and the long-term maintenance of hair cells,leading to hearing impairment.The functional study of this gene will con-tribute to the understanding of the development of the auditory and neural systems and the molecular mechanisms of he-reditary deafness.
Keywords：LMX1Anon-syndromic hearing lossNSHLDFNA7gene mutationphenotype
Publication Date：2023-12-28
Online Publishing Date：2025-08-15(First online date of this platform, not the publication date of the document)
Pages：6( 914-919 )