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一个中国DFNA9家系的听力学及前庭功能特点

Audiological and vestibular evaluation of a Chinese DFNA9 family
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摘要 目的分析携带COCH基因新突变的一个中国DFNA9家系成员的听力学及前庭功能特点。方法对家系成员进行详尽的听力学及前庭功能检查,包括纯音测听、听性脑干反应、耳蜗电图;视眼动、冷热试验、旋转试验、前庭诱发性肌源性电位,评价有无听力及前庭损害。结果该家系患者听力学检查表现为以高频下降为主的进行性感音神经性聋;前庭功能检查正常。结论中国DFNA9家系的所有vWFA2结构域突变携带者一生中均无前庭障碍的症状,详尽的前庭功能检查正常。中国DFNA9家系的临床资料分析表明DFNA9存在基因型和表现型的相关性。 Objective To analyze the clinical features of audiological and vestibular function in a Chinese DFNA9 family.Methods Comprehensive audiological and vestibular evaluation including pure tone audiometry,auditory brainstem reponse（ABR）,electrocochleogram（EcochG）,oculomotor testing,caloric tests,rotational testing and vestibular evoked myogenic potentials （VEMP）,were conducted to identify the hearing and vestibular impairment.Results All affected family members shared sensorineural hearing loss.The extensive vestibular evaluation indicated that all affected members performed normally.Conclusion The predominant feature of the Chinese DFNA9 family was that all the affected subjects harboring COCH mutation in the vWFA2 domain didn＇t suffer the vestibular symptoms during their life time and comprehensive vestibular assessment revealed normal.There is a genotype-phenotype correlation in DFNA9.
作者 孙勍 马丽涛 单希征 许剑 仇春燕 陈艾婷 冀飞 康东洋 张昕 袁慧军
机构地区 武警总医院耳鼻咽喉头颈外科 中国人民解放军总医院耳鼻咽喉科研究所
出处 《中华耳科学杂志》 CSCD 2010年第1期19-21,共3页 Chinese Journal of Otology
基金 国家高技术研究发展计划("863"高科技项目)<耳聋出生缺陷的发生机制及综合干预技术的研究>(No.2007AA02Z466) 科技部"十一五"支撑计划课题<儿童听障的分子致病机制研究>(No.2007BAI18B00)资助
关键词 COCH DFNA9 前庭功能 COCH DFNA9 Vestibular function
分类号 R764.43 [医药卫生—耳鼻咽喉科] R596 [医药卫生—内科学]
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参考文献14

  • 1Manolis EN,Yandavi N,Nadol JB Jr.et al.A gene for non-syn-dromic autosomal dominant progressive postlingual sensorineural hearing loss maps to chromosome 14q12-13.Hum Mol Genet,1996,5(7):1047-1050.
  • 2Robertson NG,Lu L,Heller S,et al.Mutations in a novel cochlear gene cause DFNA9,a human nonsyndromic deafness with vestibu-lar dysfunction.Nature Genet,1998,20(3):299-303.
  • 3Grades of hearing impairment.Prevention of deafness and hearing impairment.World Health Organization,2007.
  • 4Khetarpal U,Schuknecht HF,Gacek RR,et al.Autosomal dominant sensorineural hearing loss.Pedigrees,audiologic findings,and temporal bone findings in two kindreds.Arch Otolaryngol Head Neck Surg,1991,117(9):1032-1042.
  • 5Khetarpal U.Autosomal dominant sensorineural hearing loss:further temporal bone findings.Arch Otolaryngol Head Neck Surg,1993,119(1):106-108.
  • 6Khetarpal U.DFNA9 is a progressive audiovestibular dysfunction with a microfibrillar deposit in the inner ear.Laryngoscope,2000,110(8):1379-1384.
  • 7无.梅尼埃病的诊断依据和疗效评估(2006年,贵阳)[J].中华耳鼻咽喉头颈外科杂志,2007,42(3):163-163. 被引量：234
  • 8Kamarinos M,McJill J,Lynch M,et al.Identification of a novel COCH mutation,1109N,highlights the similar clinical features observed in DFNA9 families.Hum Mutat,2001,17(4):351-356.
  • 9Fransen E,Verstreken M,Verhagen WIM,et al.High prevalence of symptoms of Meniere's disease in three families with a mutation in the COCH gene.Hum Mol Genet,1999,8(8):1425-1429.
  • 10Usami 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.Eur J Hum Genet,2003,11(10):744-748.

二级参考文献15

  • 1Van Camp G, Smith RJH. (2006-7-16). Hereditary heating loss homepage, http://webhost. ua. ac. be/hhh/.
  • 2Manolis EN, Yandavi N, Nadol JB, et al. A gene for non-syndromic autosomal dominant progressive postlingual sensorineural hearing loss maps to chromosome 14q12-13. Hum Mol Genet, 1996,5: 1047-1050.
  • 3Robertson NG,Lu L,Hellet S,et al. Mutations in a novel cochlear gene cause DFNA9, a human nonsyndromic deafness with vestibular dysfunction. Nat Genet, 1998,20 : 299-303.
  • 4de Kok YJ, Bom SJ, Brunt TM, et al. A pro51 Ser mutation in the COCH gene is associated with late onset autosomal dominant progressive sensorineural hearing loss with vestibular defects. Hum Mol Genet, 1999,8:361-366.
  • 5Fransen E, Verstreken M, Verhagen WI, et al. High prevalence of symptoms of Meniere's disease in three families with a mutation in the COCH gene. Hum Mol Genet, 1999,8:1425-1429.
  • 6Kamarinos M, McJill J, Lynch M, et al. Identification of a novel COCH mutation, II09N, highlights the similar clinical features observed in DFNA9 families. Hum Mutat,2001,17:351.
  • 7Usami S,Takahashi K,Yuge I,et al. Mutations in the COCH gene are a frequent cause of autosomal dominant progressive cochleovestibular dysfunction, but not of Meniere's disease. Eur J Hum Genet,2003 ,11:744-748.
  • 8Nagy I, Horvath M, Trexler M, et al. A novel COCH mutation, V104del,impairs folding of the LCCL domain of cochlin and causes progressive heating loss. J Med Genet ,2004,41 : e9-11.
  • 9Street 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. Am J Med Genet A ,2005,139:86-95.
  • 10Collin RW, Pauw R J, Schoots J, et al. Identification of a novel COCH mutation, G87W, causing autosomal dominant hearing impairment (DFNAg). Am J Med Genet A,2006, 140: 1791-1794.

共引文献234

中华耳科学杂志
2010年 第1期

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