DIAPH3基因与听神经病谱系障碍

张娇;王秋菊;

1:解放军总医院耳鼻咽喉-头颈外科解放军耳鼻咽喉研究所

摘要
<正>听神经病谱系障碍(auditory neuropathy spectrum disorder,ANSD),也称为听神经病(auditory neuropathy,AN),是一种外毛细胞功能正常,而内毛细胞和听神经突触和/或听神经本身功能不良导致的听功能障碍[1,2]。ANSD典型的临床表现[3-7]是言语理解力受损,而言语觉察阈和纯音听阈可以正常,也可以严重受损。ANSD主要影响对快速变化声信号的处理,即听觉时间处理的能力[3]。
关键词
基金项目(Foundation):
国家自然基金重点项目(30830104);国家自然基金重大国际合作项目(81120108009);; 全军“十二五”重点项目(BWS11J026)联合资助
作者
张娇;王秋菊;
参考文献

1 Starr A,Picton TW,Sininger Y,et al.Auditory neuropathy[J].Brain,1996,119:741.

2 Berlin CI,Hood LJ,Morlet T,et al.Multi-site diagnosis and management of 260patients with auditory neuropathy/dys-synchrony(auditory neuropathy spectrum disorder)[J].Int J Audiol,2010,49:30.

3 Sanyelbhaa Talaat H,Kabel AH,Samy H,et al.Prevalenceof auditory neuropathy(AN)among infants and young children with severe to profound hearing loss[J].Int J Pediatr Otorhinolaryngol,2009 73:937.

4 Dowley AC,Whitehouse WP,Mason SM,et al.Auditory neuropathy:unexpectedly common in a screened newborn population[J].Dev Med Child Neurol,2009,51:642.

5 王锦玲.听神经病的诊断及病变部位探讨[J].医学研究生学报,2008,21:1 121.

6 倪道凤.听神经病临床研究现状[J].听力学及言语疾病杂志,2005,13:226.

7 兰兰,韩东一,王秋菊,等.听神经病患者最大言语识别率与纯音听阈的相关性分析[J].中华耳鼻咽喉头颈外科杂志,2008,43:341.

8 Bielecki I,Horbulewicz A,Wolan T.Prevalence and risk factors for auditory neuropathy spectrum disorder in a screened newborn population at risk for hearing loss[J].Int J Pediatr Otorhinolaryngol,2012,76:1 668.

9 Ye HB,Shi HB,Wang J,et al.Bilirubin induces auditory neuropathy in neonatal guinea pigs via auditory nerve fiber damage[J].J Neurosci Res,2012,90:2201.

10 Coenraad S,Goedegebure A,van Goudoever JB,et al.Risk factors for auditory neuropathy spectrum disorder in NICU infants compared to normal-hearing NICU controls[J].Laryngoscope,2011,121:852.

11 Manchaiah VK,Zhao F,Danesh AA,et al.The genetic basis of auditory neuropathy spectrum disorder(ANSD)[J].Int J Pediatr Otorhinolaryngol,2011,75:151.

12 Schoen CJ,Emery SB,Thorne MC,et al.Increased activity of Diaphanous homolog 3(DIAPH3)/diaphanous causes hearing defects in humans with auditory neuropathy and in Drosophila[J].Proc Natl Acad Sci USA,2010,107:13 396.

13 Del Castillo FJ,Del Castillo I.Genetics of isolated auditory neuropathies[J].Front Biosci,2012,17:1 251.

14 Wang DY,Wang YC,Wang QJ,et al.Screening mutations of OTOF gene in Chinese patients with auditory neuropathy,including a familial case of temperature-sensitive auditory neuropathy[J].BMC Med Genet,2010,11:79.

15 Delmaghani S,del Castillo FJ,Michel V,et al.Mutations in the gene encoding pejvakin,a newly identified protein of the afferent auditory pathway,cause DFNB59auditory neuropathy[J].Nat Genet,2006,38:770.

16 Chang EH,Van Camp G,Smith RJ.The role of connexins in human disease[J].Ear Hear,2003,24:314.

17 Wang QJ,Li QZ,Rao SQ,et al.AUNX1,a novel locus responsible for X linked recessive auditory and peripheral neuropathy,maps to Xq23-27.3[J].J Med Genet,2006,43:e33.

18 Wang Q,Li R,Zhao H,et al.Clinical and molecular characterization of a Chinese patient with auditory neuropathy associated with mitochondrial 12SrRNA T1095C mutation[J].Am J Med Genet A,2005,133:27.

19 Stastna J,Pan X,Wang H,et al.Differing and isoformspecific roles for the formin DIAPH3in plasma membrane blebbing and filopodia formation[J].Cell Res,2012,22:728.

20 Katoh M,Katoh M.Identification and characterization of humanDIAPH3gene in silico[J].Int J Mol Med,2004,13:473.

21 Schonichen A,Geyer M.Fifteen formins for an actin filament:A molecular view on the regulation of human formins[J].Biochim Biophys Acta,2010,1 803:152.

22 Higgs HN.Formin proteins:a domain-based approach[J].Trends Biochem Sci,2005,30:342.

23 Wallar BJ,Stropich BN,Schoenherr JA,et al.The basic region of the diaphanous-autoregulatory domain(DAD)is required for autoregulatory interactions with the diaphanousrelated formin inhibitory domain[J].J Biol Chem,2006,281 :4 300.

24 Gorelik R,Yang C,Kameswaran V,et al.Mechanisms of plasma membrane targeting of formin mDia2through its amino terminal domains[J].Mol Biol Cell,2011,22:189.

25 Wallar BJ,Alberts AS.The formins:active scaffolds that remodel the cytoskeleton[J].Trends Cell Biol,2003,13:435 .

26 Eng CH,Huckaba TM,Gundersen GG.The formin mDia regulates GSK3beta through novel PKCs to promote microtubule stabilization but not MTOC reorientation in migrating fibroblasts[J].Mol Biol Cell,2006,17:5 004.

27 Chesarone MA,DuPage AG,Goode BL.Unleashing formins to remodel the actin and microtubule cytoskeletons[J].Nat Rev Mol Cell Biol,2010,11:62.

28 Pawson C,Eaton BA,Davis GW.Formin-dependent synaptic growth:evidence that Dlar signals via Diaphanous to modulate synaptic actin and dynamic pioneer microtubules[J].J Neurosci,2008,28:11 111.

29 Kim TB,Isaacson B,Sivakumaran TA,et al.A gene responsible for autosomal dominant auditory neuropathy(AUNA1)maps to 13q14-21[J].J Med Genet,2004,41:872.

30 Starr A,Isaacson B,Michalewski HJ,et al.A dominantly inherited progressive deafness affecting distal auditory nerve and hair cells[J].J Assoc Res Otolaryngol,2004,5:411.

31 Hotulainen P,Llano O,Smirnov S,et al.Defining mechanisms of actin polymerization and depolymerization during dendritic spine morphogenesis[J].J Cell Biol,2009,185:323.

32 Spoendlin H.Anatomy of cochlear innervation[J].Am J Otolaryngol,1985,6:453.

33 Kollmar R.Who does the hair cell's'do?Rho GTPases and hair-bundle morphogenesis[J].Curr Opin Neurobiol,1999,9 :394.

34 Lin HW,Schneider ME,Kachar B.When size matters:the dynamic regulation of stereocilia lengths[J].Curr Opin Cell Biol,2005,17:55.

35 Santarelli R.Information from cochlear potentials and genetic mutations helps localize the lesion site in auditory neuropathy[J].Genome Med,2010,2:91.

36 卢新红,陈睿春,鲁雅洁,等.常染色体显性遗传性听神经病家系候选致病基因突变筛查[J].临床耳鼻咽喉头颈外科杂志,2012,26:455.

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张娇王秋菊