MITF致Ⅱ型Waardenburg综合征耳聋研究进展
龚巍;冯永;宋剑;马璐
1:南华大学附属长沙中心医院耳鼻咽喉头颈外科
2:南华大学耳鼻咽喉头颈外科研究所
3:中南大学湘雅医院耳鼻咽喉头颈外科
4:南华大学衡阳医学院
1 Shelby MV.Waardenburg syndrome expression and penetrance[J].J Rare Dis Res Treat,2017,2(6):31-40.
2 刘亚兰,张华,冯永.神经嵴发育异常导致综合征型耳聋的机制[J].遗传,2014,36(11):1131-1144.
3 任丽丽,郭维维,杨仕明.MITF与Waardenburg综合征[J].中华耳科学杂志,2013,11(1):145-150.
4 Liu H,Li Y,Chen L,et al.Organ of corti and stria vascularis:is there an interdependence for survival[J]?PLoS One,2016,11(12):e0168953.
5 Chen L,Guo W,Ren L,et al.A de novo silencer causes elimination of MITF-M expression and profound hearing loss in pigs[J].BMC Biol,2016,14:52.
6 陈林军,邱士伟,龙熙,等.MitfM基因突变对猪耳蜗血管纹发育的影响[J].中华耳科学杂志,2018,14(4):483-487.
7 Song J,Feng Y,Acke FR,et al.Hearing loss in Waardenburg syndrome:a systematic review[J].Clin Genet,2016,89(4):416-425.
8 Goding CR,Arnheiter H.MITF-the first 25 years[J].Genes Dev,2019,33(15-16):983-1007.
9 Ploper D,De Robertis EM.The MITF family of transcription factors:role in endolysosomal biogenesis,wnt signaling,and oncogenesis[J].Pharmacol Res,2015,99:36-43.
10 Seberg HE,Van Otterloo E,Cornell RA.Beyond MITF:multiple transcription factors directly regulate the cellular phenotype in melanocytes and melanoma[J].Pigment Cell Melanoma Res,2017,30(5):454-466.
11 Philipp U,Lupp B,Momke S,et al.A MITF mutation associated with a dominant white phenotype and bilateral deafness in German Fleckvieh cattle[J].PLoS One,2011,6(12):e28857.
12 Tsuchida S,Takizawa T,Abe K,et al.Identification of microphthalmia-associated transcription factor isoforms in dogs[J].Vet J,2009,182(2):283-293.
13 Henkel J,Lafayette C,Brooks SA,et al.Whole-genome sequencing reveals a large deletion in the MITF gene in horses with white spotted coat colour and increased risk of deafness[J].Anim Genet,2019,50(2):172-174.
14 Chen L,Wang L,Chen L,et al.Transcript profiles of stria vascularis in models of waardenburg syndrome[J].Neural Plast,2020,2020:2908182.
15 Dai C,Lehar M,Sun DQ,et al.Rhesus Cochlear and vestibular functions are preserved after inner ear injection of saline volume sufficient for gene therapy delivery[J].J Assoc Res Otolaryngol,2017,18(4):601-617.
16 Huang S,Song J,He C,et al.Genetic insights,disease mechanisms,and biological therapeutics for Waardenburg syndrome[J].Gene Ther,2021.DOI:10.1038/S41434-021-00240-2.
17 Mahmoudian-Sani MR,Jami MS,Mahdavinezhad A,et al.The effect of the MicroRNA-183 family on hair cell-specific markers of human bone marrow-derived mesenchymal stem cells[J].Audiol Neurootol,2018,23(4):208-215.
18 Kang W,Sun Z,Zhao X,et al.Gene editing based hearing impairment research and therapeutics[J].Neurosci Lett,2019,709:134326.
19 Kim MA,Kim SH,Ryu N,et al.Gene therapy for hereditary hearing loss by SLC26A4 mutations in mice reveals distinct functional roles of pendrin in normal hearing[J].Theranostics,2019,9(24):7184-7199.
20 Wen J,He C,Feng Y,et al.Establishment of an iPSC line (CSUXHi004-A) from a patient with Waardenburg syndrome type I caused by a PAX3 splice mutation[J].Stem Cell Res,2021,53:102300.
21 Wang P,Wang J,Xing Y,et al.Establishment of an iPSC line (JTUi002-A) from a patient with Waardenburg syndrome caused by a SOX10 mutation and carrying a GJB2 mutation[J].Stem Cell Res,2020,44:101756.
22 Gunewardene N,Crombie D,Dottori M,et al.Innervation of cochlear hair cells by human induced pluripotent stem cell-derived neurons in vitro[J].Stem Cells Int,2016,2016:1781202.
23 Wen J,Song J,He C,et al.Establishment of an iPSC line (CSUXHi003-A) from a patient with Waardenburg syndrome type caused by a MITF mutation[J].Stem Cell Res,2021,51:102157.
24 王翠翠,陈建玲,唐子华,等.iPSCs定向分化的内耳毛细胞与支持细胞间相互作用的研究[J].中华耳科学杂志,2017,15(4):489-497.
25 Yao J,Wang Y,Cao C,et al.CRISPR/Cas9-mediated correction of MITF homozygous point mutation in a Waardenburg syndrome 2A pig model[J].Mol Ther Nucleic Acids,2021,24:986-999.
26 刘日渊,赵立东,丛涛,等.干细胞治疗耳聋研究进展[J].中华耳科学杂志,2016,14(1):6-9.
27 Maguire CA,Corey DP.Viral vectors for gene delivery to the inner ear[J].Hear Res,2020,394:107927.
28 Fakhiri J,Landegger LD,Grimm D.Breaking the sound barrier:towards next-generation AAV vectors for gene therapy of hearing disorders[J].Hear Res,2020,2020:108092.