76例听神经病患者OTOF基因突变分析
Analysis of OTOF Gene Mutations in 76 Cases of Auditory Neuropathy
王大勇;王秋菊;兰兰;赵亚丽;丁海娜;纵亮;韩东一;
1:解放军总医院耳鼻咽喉-头颈外科解放军耳鼻咽喉科研究所
2:解放军总医院耳鼻咽喉-头颈外科解放军耳鼻咽喉科研究所
3:解放军总医院耳鼻咽喉-头颈外科解放军耳鼻咽喉科研究所
4:解放军总医院耳鼻咽喉-头颈外科解放军耳鼻咽喉科研究所
1Starr A,Picton TW,Sininger Y,et al.Auditory neuropathy[J].Brain,1996,119:741.
2Yasunaga S,Grati M,Petit C,et al.A mutation in OTOF,encoding otoferlin,a FER-1-like protein,causes DFNB9,a nonsyndromic form of deafness[J].Nature Genet,1999,21:363,
3Yasunaga S,Grati M,Petit C,et al.OTOF encodes multiple long and short isoforms:genetic evidence that the long ones underlie recessive deafness DFNB9[J].Am J Hum Genet,2000,67:591.
4Adato A,Raskin L,Petit C,et al.Deafness heterogeneity in a Druze isolate fromthe Middle East:novel OTOF and PDS mutations,low prevalence of GJB235del G mutation and indi-cation for a new DFNBlocus[J].Europ J Hum Genet,2000,8:437.
5Migliosi V,Modamio-Hoybjor S,Moreno-Pelayo MA,et al.Q829X,a novel mutation in the gene encoding otoferlin(OTOF),is frequently found in Spanish patients with prelin-gual non-syndromic hearingloss[J].J Med Genet,2002,39:502.
6Varga R,Kelley PM,Keats BJ,et al.Non-syndromic reces-sive auditory neuropathy is the result of mutations in the oto-ferlin(OTOF)gene[J].J Med Genet,2003,40:45.
7Tekin M,Akcayoz D,Incesulu A.Anovel missense mutation in a C2domain of OTOFresults in autosomal recessive audito-ry neuropathy[J].AmJ Med Genet,2005,138A:6.
8Varga R,Avenarius MR,Kelley PM,et al.OTOF mutations revealed by genetic analysis of hearingloss families including a potential temperature sensitive auditory neuropathy allele[J].J Med Genet,2006,43:576.
9Roux I,Safieddine S,Petit1C,et al.Otoferlin,defective in a human deafness form,is essential for exocytosis at the audito-ry ribbon synapse[J].Cell,2006,08:40.
10Wang Qj,Li R,Zhao H,et al.Clinical and molecular charac-terization of a Chinese patient with auditory neuropathy associ-ated mitochondrial12S rRNA T1095C mutation[J].J Med Genet,2005,133A:27.
11Wang QJ,Li QZ,Rao SQ,et al.AUNX1,a novel locus re-sponsible for X linked recessive auditory and peripheral neu-ropathy,maps to Xq23-27.3[J].J Med Genet,2006,43:33.
12王秋菊,李庆忠,刘穹,等:遗传性听神经病的基因定位及候选基因筛查研究[J].中华耳科学杂志,2005,3:245.