COCH基因在遗传性聋及多种相关疾病中的研究进展

陈永嘉;凌捷;贺楚峰;梅凌云;

1:中南大学湘雅医院耳鼻咽喉头颈外科

2:中南大学湘雅医院精准医学研究所

3:耳鼻咽喉科重大疾病研究湖南省重点实验室

摘要
<正>目前已发现与非综合征型聋相关的致病基因有120余个(http://hereditaryhearingloss.org),其中群体凝血因子C同源物(coagulation factor C homology,COCH)基因是首个被报道伴有前庭功能障碍的常染色体显性遗传性非综合征型聋,即DFNA9(deafness autosomal dominant 9)型聋致病基因。迄今为止文献共报道了27个与DFNA9相关的COCH基因突变致病位点,并发现其突变位点与听力和前庭表型密切相关[1~4]。
关键词
基金项目(Foundation):
国家自然科学基金面上项目(81873705、82171154)
作者
陈永嘉;凌捷;贺楚峰;梅凌云;
参考文献

1 Masuda M,Mutai H,Arimoto Y,et al.A novel frameshift variant of COCH supports the hypothesis that haploinsufficiency is not a cause of autosomal dominant nonsyndromic deafness 9[J].Biochem Biophys Res Commun,2016,469 (2):270-274.

2 JanssensdeVarebeke SPF,Van Camp G,Peeters N,et al.Bi-allelic inactivating variants in the COCH gene cause autosomal recessive prelingual hearing impairment[J].Eur J Hum Genet,2018,26 (4):587-591.

3 Mehregan H,Mohseni M,Akbari M,et al.Novel Mutations in KCNQ4,LHFPL5 and COCH Genes in Iranian Families with Hearing Impairment[J].Arch Iran Med,2019,22(4):189-197.

4 Gu X,Su W,Tang M,et al.Massively parallel sequencing of a chinese family with DFNA9 identified a novel missense mutation in the LCCL domain of COCH[J].Neural Plast,2016,2016:5310192.

5 Ikezono T,Matsumura T,Matsuda H,et al.The diagnostic performance of a novel ELISA for human CTP (cochlin-tomoprotein) to detect perilymph leakage[J].PLoS One,2018,13(1):e0191498.

6 Ikezono T,Omori A,Ichinose S,et al.Identification of the protein product of the Coch gene (hereditary deafness gene) as the major component of bovine inner ear protein[J].Biochim Biophys Acta,2001,1535(3):258-265.

7 Bae SH,Robertson NG,Cho HJ,et al.Identification of pathogenic mechanisms of COCH mutations,abolished cochlin secretion,and intracellular aggregate formation:genotype-phenotype correlations in DFNA9 deafness and vestibular disorder[J].Hum Mutat,2014,35(12):1506-1513.

8 Trexler M,Banyai L,Patthy L.The LCCL module[J].Eur J Biochem,2000,267(18):5751-5757.

9 Liepinsh E,Trexler M,Kaikkonen A,et al.NMR structure of the LCCL domain and implications for DFNA9 deafness disorder[J].Embo J,2001,20(19):5347-5353.

10 Pathak S,Hatam LJ,Bonagura V,et al.Innate immune recognition of molds and homology to the inner ear protein,cochlin,in patients with autoimmune inner ear disease[J].J Clin Immunol,2013,33(7):1204-1215.

11 Jung J,Yoo JE,Choe YH,et al.Cleaved cochlin sequesters pseudomonas aeruginosa and activates innate immunity in the inner ear[J].Cell Host Microbe,2019,25(4):513-525.

12 Shindo S,Ikezono T,Ishizaki M,et al.Spatiotemporal expression of cochlin in the inner ear of rats during postnatal development[J].Neurosci Lett,2008,444(2):148-152.

13 Burgess BJ,O'Malley JT,Kamakura T,et al.Histopathology of the human inner ear in the p.L114P COCH mutation (DFNA9)[J].Audiol Neurootol,2016,21(2):88-97.

14 Jones SM,Robertson NG,Given S,et al.Hearing and vestibular deficits in the Coch(-/-) null mouse model:comparison to the Coch(G88E/G88E) mouse and to DFNA9 hearing and balance disorder[J].Hear Res,2011,272(1-2):42-48.

15 Choi BY,Park G,Gim J,et al.Diagnostic application of targeted resequencing for familial nonsyndromic hearing loss[J].PLoS One,2013,8(8):e68692.

16 de Kok YJ,Bom SJ,Brunt TM,et al.A Pro51Ser mutation in the COCH gene is associated with late onset autosomal dominant progressive sensorineural hearing loss with vestibular defects[J].Hum Mol Genet,1999,8(2):361-366.

17 Collin RW,Pauw RJ,Schoots J,et al.Identification of a novel COCH mutation,G87W,causing autosomal dominant hearing impairment (DFNA9)[J].Am J Med Genet A,2006,140(16):1791-1794.

18 Chen DY,Chai YC,Yang T,et al.Clinical characterization of a novel COCH mutation G87V in a Chinese DFNA9 family[J].Int J Pediatr Otorhinolaryngol,2013,77(10):1711-1715.

19 Kemperman MH,De Leenheer EM,Huygen PL,et al.Audiometric,vestibular,and genetic aspects of a DFNA9 family with a G88E COCH mutation[J].Otol Neurotol,2005,26(5):926-933.

20 Nagy I,Horvath M,Trexler M,et al.A novel COCH mutation,V104del,impairs folding of the LCCL domain of cochlin and causes progressive hearing loss[J].J Med Genet,2004,41(1):e9.

21 Kamarinos M,McGill J,Lynch M,et al.Identification of a novel COCH mutation,I109N,highlights the similar clinical features observed in DFNA9 families[J].Hum Mutat,2001,17(4):351.

22 Pauw RJ,Huygen PL,Collin RW,et al.Phenotype description of a novel DFNA9/COCH mutation,I109T[J].Ann Otol Rhinol Laryngol,2007,116(5):349-357.

23 Usami S,Takahashi K,Yuge I,et al.Mutations in the COCH gene are a frequent cause of autosomal dominant progressive cochleo-vestibular dysfunction,but not of Meniere's disease[J].Eur J Hum Genet,2003,11(10):744-748.

24 Hildebrand MS,Gandolfo L,Shearer AE,et al.A novel mutation in COCH-implications for genotype-phenotype correlations in DFNA9 hearing loss[J].Laryngoscope,2010,120(12):2489-2493.

25 Jung J,Kim HS,Lee MG,et al.Novel COCH p.V123E mutation,causative of DFNA9 sensorineural hearing loss and vestibular disorder,shows impaired cochlin post-translational cleavage and secretion[J].Hum Mutat,2015,36(12):1168-1175.

26 Gao J,Xue J,Chen L,et al.Whole exome sequencing identifies a novel DFNA9 mutation,C162Y[J].Clin Genet,2013,83(5):477-481.

27 Tsukada K,Ichinose A,Miyagawa M,et al.Detailed hearing and vestibular profiles in the patients with COCH mutations[J].Ann Otol Rhinol Laryngol,2015,124(suppl 1):100s-110s.

28 Gallant E,Francey L,Fetting H,et al.Novel COCH mutation in a family with autosomal dominant late onset sensorineural hearing impairment and tinnitus[J].Am J Otolaryngol,2013,34(3):230-235.

29 Faletra F,Pirastu N,Athanasakis E,et al.A novel mutation in the vWFA2 domain of the COCH gene in an Italian DFNA9 family[J].Audiological Medicine,2011,9(1):4-7.

30 Yuan HJ,Han DY,Sun Q,et al.Novel mutations in the vWFA2 domain of COCH in two Chinese DFNA9 families[J].Clin Genet,2008,73(4):391-394.

31 Cho HJ,Park HJ,Trexler M,et al.A novel COCH mutation associated with autosomal dominant nonsyndromic hearing loss disrupts the structural stability of the vWFA2 domain[J].J Mol Med (Berl),2012,90(11):1321-1331.

32 Street VA,Kallman JC,Robertson NG,et al.A novel DFNA9 mutation in the vWFA2 domain of COCH alters a conserved cysteine residue and intrachain disulfide bond formation resulting in progressive hearing loss and site-specific vestibular and central oculomotor dysfunction[J].Am J Med Genet A,2005,139a(2):86-95.

33 孙燕,刘博,戴海江,等.梅尼埃病患者COCH基因第4和5外显子突变研究[J].中华医学杂志,2005,85(5):345-347.

34 Wang Q,Fei P,Gu H,et al.Different phenotypes of the two chinese probands with the same c.889G>A (p.C162Y) mutation in COCH gene verify different mechanisms underlying autosomal dominant nonsyndromic deafness 9[J].PLoS One,2017,12(1):e0170011.

35 Frejo L,Soto-Varela A,Santos-Perez S,et al.Clinical subgroups in bilateral Meniere disease[J].Front Neurol,2016,7:182.

36 Frejo L,Martin-Sanz E,Teggi R,et al.Extended phenotype and clinical subgroups in unilateral Meniere disease:a cross-sectional study with cluster analysis[J].Clin Otolaryngol,2017,42(6):1172-1180.

37 Verhagen WI,Bom SJ,Huygen PL,et al.Familial progressive vestibulocochlear dysfunction caused by a COCH mutation (DFNA9)[J].Arch Neurol,2000,57(7):1045-1047.

38 Verhagen WI,Bom SJ,Fransen E,et al.Hereditary cochleovestibular dysfunction due to a COCH gene mutation (DFNA9):a follow-up study of a family[J].Clin Otolaryngol Allied Sci,2001,26(6):477-483.

39 Sanchez E,Lopez-Escamez JA,Lopez-Nevot MA,et al.Absence of COCH mutations in patients with Meniere disease[J].Eur J Hum Genet,2004,12(1):75-78.

40 Hietikko E,Kotimaki J,Kentala E,et al.Finnish familial Meniere disease is not linked to chromosome 12p12.3,and anticipation and cosegregation with migraine are not common findings[J].Genet Med,2011,13(5):415-420.

41 Conte G,Lo Russo F,Caschera L,et al.Audiovestibular phenotypes and advanced magnetic resonance imaging features of cochlin gene mutation carriers[J].Audiol Neurootol,2019,24(4):166-173.

42 Mijovic T,Zeitouni A,Colmegna I.Autoimmune sensorineural hearing loss:the otology-rheumatology interface[J].Rheumatology (Oxford),2013,52(5):780-789.

43 Baek MJ,Park HM,Johnson JM,et al.Increased frequencies of cochlin-specific T cells in patients with autoimmune sensorineural hearing loss[J].J Immunol,2006,177(6):4203-4210.

44 Boulassel MR,Deggouj N,Tomasi JP,et al.Inner ear autoantibodies and their targets in patients with autoimmune inner ear diseases[J].Acta Otolaryngol,2001,121(1):28-34.

45 Ikezono T,Shindo S,Li L,et al.Identification of a novel cochlin isoform in the perilymph:insights to cochlin function and the pathogenesis of DFNA9[J].Biochem Biophys Res Commun,2004,314(2):440-446.

46 Komori M,Yamamoto Y,Yaguchi Y,et al.Cochlin-tomoprotein test and hearing outcomes in surgically treated true idiopathic perilymph fistula[J].Acta Otolaryngol,2016,136 (9):901-904.

47 Matsuda H,Sakamoto K,Matsumura T,et al.A nationwide multicenter study of the Cochlin tomo-protein detection test:clinical characteristics of perilymphatic fistula cases[J].Acta Otolaryngol,2017,137(sup565):s53-s59.

48 Bhattacharya SK,Rockwood EJ,Smith SD,et al.Proteomics reveal cochlin deposits associated with glaucomatous trabecular meshwork[J].J Biol Chem,2005,280(7):6080-6084.

本文信息

PDF(1237K)

本文关键词相关文章

本文作者相关文章

陈永嘉凌捷贺楚峰梅凌云