期刊文献+

COCH基因在遗传性聋及多种相关疾病中的研究进展

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摘要 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]。
出处 《听力学及言语疾病杂志》 CAS CSCD 北大核心 2022年第2期208-213,共6页 Journal of Audiology and Speech Pathology
基金 国家自然科学基金面上项目(81873705、82171154)。
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  • 1Robertson NG, Skvorak AB, Yin Y, et al. Mapping and characterization of a novel Cochlear gene in human and in mouse: a positional candidate gene for a deafness disorder, DFNA9. Genomics, 1997, 46:345-354.
  • 2Robertson NG, Lu L, Heller S, et al. Mutation in a novel cochlear gene cause DFNA9, a human nonsyndromic deafness with vestibular dysfunction. Nature Genet, 1998, 20:299-303.
  • 3de Kok Y, Bom SJH, 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. Hum Mol Genet, 1999, 8:161-166.
  • 4Fransen 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, 8:1425-1429.
  • 5Kamarinos M, McJill J, Lynch M, et al. Identification of a novel COCH mutation, I109N, highlights the similar clinical features observed in DFNA9 families. Hum Mutat, 2001, 17:351.
  • 6Francen E, Verstreken M, Bom SJH, et al. A common ancestor for COCH related cochleovestibular (DFNA9) patients in Belgium and the Netherlands bearing the P51S mutation. J Med Genet, 2001, 38:61-64.
  • 7van Camp G, Smith RJH. Hereditary hearing loss homepage. http://dnalab-www.uia.ac.be/dnalab/hhh.
  • 8Bom SJH, Kunst HPM, Huygen PLM, et al. Nonsyndromal autosomal hearing impairment:ongoing phenotypical characterization of genotypes. Br J Audiol, 1999, 33:335-348.
  • 9Usami 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, 11:744-748.
  • 10Verhagen WIM, Bom SJH, Fransen E, et al. Hereditary cochleovestibular dysfunction due to a COCH gene mutation (DFNA9):a follow-up study of a family. Clin Otolaryngol, 2001, 26:477-483.

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