中华耳科学杂志2023，Vol.21Issue(6)：914-919,6.DOI:10.3969/j.issn.1672-2922.2023.06.027
LMX1A突变致遗传性耳聋的研究进展
Advances in Research on Hereditary Deafness Caused by LMX1A Mutations
摘要
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.关键词
LMX1A/非综合征型遗传性耳聋/DFNA7/基因突变/表型Key words
LMX1A/non-syndromic hearing loss,NSHL/DFNA7/gene mutation/phenotype分类
医药卫生引用本文复制引用
厚媛,石元贞,段世宏..LMX1A突变致遗传性耳聋的研究进展[J].中华耳科学杂志,2023,21(6):914-919,6.基金项目
This work was supported by the Natural Science Foundation of Gansu Province(20JR10RA592)甘肃省自然科学基金(20JR10RA592) （20JR10RA592）
