Screening mutations of OTOF gene in Chinese patients with auditory neuropathy, including a familial case of temperature-sensitive auditory neuropathy
详细信息 查看全文
- 作者：Da-Yong Wang (1)
Yi-Chen Wang (2) (2)
Dominique Weil (3)
Ya-Li Zhao (4)
Shao-Qi Rao (5)
Liang Zong (1)
Yu-Bin Ji (1)
Qiong Liu (1)
Jian-Qiang Li (1)
Huan-Ming Yang (2) (2)
Yan Shen (4) (7)
Cindy Benedict-Alderfer (6)
Qing-Yin Zheng (6)
Christine Petit (3)
Qiu-Ju Wang (1) (7) - 刊名：BMC Medical Genetics
- 出版年：2010
- 出版时间：December 2010
- 年：2010
- 卷：11
- 期：1
- 全文大小：1112KB
- 参考文献：1. Rance G: Auditory neuropathy/dys-synchrony and its perceptual consequences. / Trends Amplif 2005, 9: 1鈥?3. CrossRef
2. Starr A, Picton TW, Sininger Y, Hood LJ, Berlin CI: Auditory neuropathy. / Brain 1996, 119 (Pt 3) : 741鈥?53. CrossRef
3. Starr A, Sininger YS, Pratt H: The varieties of auditory neuropathy. / J Basic Clin Physiol Pharmacol 2000, 11 (3) : 215鈥?30.
4. Vlastarakos PV, Nikolopoulos TP, Tavoulari E, Papacharalambous G, Korres S: Auditory neuropathy: endocochlear lesion or temporal processing impairment? Implications for diagnosis and management. / Int J Pediatr Otorhinolaryngol 2008, 72 (8) : 1135鈥?150. CrossRef
5. Madden C, Rutter M, Hilbert L, Greinwald JH Jr, Choo DI: Clinical and audiological features in auditory neuropathy. / Arch Otolaryngol Head Neck Surg 2002, 128 (9) : 1026鈥?030.
6. Willems PJ: Genetic causes of hearing loss. / N Engl J Med 2000, 342 (15) : 1101鈥?109. CrossRef
7. Chaib H, Place C, Salem N, Chardenoux S, Vincent C, Weissenbach J, El-Zir E, Loiselet J, Petit C: A gene responsible for a sensorineural nonsyndromic recessive deafness maps to chromosome 2p22鈥?3. / Hum Mol Genet 1996, 5 (1) : 155鈥?58. CrossRef
8. Yasunaga S, Grati M, Chardenoux S, Smith TN, Friedman TB, Lalwani AK, Wilcox ER, Petit C: OTOF encodes multiple long and short isoforms: genetic evidence that the long ones underlie recessive deafness DFNB9. / Am J Hum Genet 2000, 67 (3) : 591鈥?00. CrossRef
9. Varga R, Kelley PM, Keats BJ, Starr A, Leal SM, Cohn E, Kimberling WJ: Non-syndromic recessive auditory neuropathy is the result of mutations in the otoferlin (OTOF) gene. / J Med Genet 2003, 40 (1) : 45鈥?0. CrossRef
10. Romanos J, Kimura L, Favero ML, Izarra FA, de Mello Auricchio MT, Batissoco AC, Lezirovitz K, Abreu-Silva RS, Mingroni-Netto RC: Novel OTOF mutations in Brazilian patients with auditory neuropathy. / J Hum Genet 2009, 54 (7) : 382鈥?85. CrossRef
11. Rodriguez-Ballesteros M, Reynoso R, Olarte M, Villamar M, Morera C, Santarelli R, Arslan E, Meda C, Curet C, Volter C, / et al.: A multicenter study on the prevalence and spectrum of mutations in the otoferlin gene (OTOF) in subjects with nonsyndromic hearing impairment and auditory neuropathy. / Hum Mutat 2008, 29 (6) : 823鈥?31. CrossRef
12. Ebermann I, Walger M, Scholl HP, Charbel Issa P, Luke C, Nurnberg G, Lang-Roth R, Becker C, Nurnberg P, Bolz HJ: Truncating mutation of the DFNB59 gene causes cochlear hearing impairment and central vestibular dysfunction. / Hum Mutat 2007, 28 (6) : 571鈥?77. CrossRef
13. Delmaghani S, del Castillo FJ, Michel V, Leibovici M, Aghaie A, Ron U, Van Laer L, Ben-Tal N, Van Camp G, Weil D, / et al.: Mutations in the gene encoding pejvakin, a newly identified protein of the afferent auditory pathway, cause DFNB59 auditory neuropathy. / Nat Genet 2006, 38 (7) : 770鈥?78. CrossRef
14. Wang Q, Li R, Zhao H, Peters JL, Liu Q, Yang L, Han D, Greinwald JH Jr, Young WY, Guan MX: Clinical and molecular characterization of a Chinese patient with auditory neuropathy associated with mitochondrial 12S rRNA T1095C mutation. / Am J Med Genet A 2005, 133A (1) : 27鈥?0. CrossRef
15. Wang QJ, Li QZ, Rao SQ, Lee K, Huang XS, Yang WY, Zhai SQ, Guo WW, Guo YF, Yu N, / et al.: AUNX1, a novel locus responsible for X linked recessive auditory and peripheral neuropathy, maps to Xq23鈥?7.3. / J Med Genet 2006, 43 (7) : e33. CrossRef
16. Choi BY, Ahmed ZM, Riazuddin S, Bhinder MA, Shahzad M, Husnain T, Griffith AJ, Friedman TB: Identities and frequencies of mutations of the otoferlin gene ( OTOF ) causing DFNB9 deafness in Pakistan. / Clin Genet 2009, 75 (3) : 237鈥?43. CrossRef
17. Roux I, Safieddine S, Nouvian R, Grati M, Simmler MC, Bahloul A, Perfettini I, Le Gall M, Rostaing P, Hamard G, / et al.: Otoferlin, defective in a human deafness form, is essential for exocytosis at the auditory ribbon synapse. / Cell 2006, 127 (2) : 277鈥?89. CrossRef
18. Longo-Guess C, Gagnon LH, Bergstrom DE, Johnson KR: A missense mutation in the conserved C2B domain of otoferlin causes deafness in a new mouse model of DFNB9. / Hear Res 2007, 234 (1鈥?) : 21鈥?8. CrossRef
19. Achanzar WE, Ward S: A nematode gene required for sperm vesicle fusion. / J Cell Sci 1997, 110 (Pt 3) : 1073鈥?081.
20. Yasunaga S, Grati M, Cohen-Salmon M, El-Amraoui A, Mustapha M, Salem N, El-Zir E, Loiselet J, Petit C: A mutation in OTOF , encoding otoferlin, a FER-1-like protein, causes DFNB9, a nonsyndromic form of deafness. / Nat Genet 1999, 21 (4) : 363鈥?69. CrossRef
21. Parsons TD: Neurobiology: auditory fidelity. / Nature 2006, 444 (7122) : 1013鈥?014. CrossRef
22. Mirghomizadeh F, Pfister M, Apaydin F, Petit C, Kupka S, Pusch CM, Zenner HP, Blin N: Substitutions in the conserved C2C domain of otoferlin cause DFNB9, a form of nonsyndromic autosomal recessive deafness. / Neurobiol Dis 2002, 10 (2) : 157鈥?64. CrossRef
23. Varga R, Avenarius MR, Kelley PM, Keats BJ, Berlin CI, Hood LJ, Morlet TG, Brashears SM, Starr A, Cohn ES, / et al.: OTOF mutations revealed by genetic analysis of hearing loss families including a potential temperature sensitive auditory neuropathy allele. / J Med Genet 2006, 43 (7) : 576鈥?81. CrossRef
24. Wang Q, Lan L, Yu L, Guo M, Chen Z, Gu R: Temperature sensitive auditory neuropathy. / The Journal of Audiology and Speak Pathology (Chinese) 2006, 14 (1) : 21鈥?6.
25. Migliosi V, Modamio-Hoybjor S, Moreno-Pelayo MA, Rodriguez-Ballesteros M, Villamar M, Telleria D, Menendez I, Moreno F, Del Castillo I: Q829X, a novel mutation in the gene encoding otoferlin ( OTOF ), is frequently found in Spanish patients with prelingual non-syndromic hearing loss. / J Med Genet 2002, 39 (7) : 502鈥?06. CrossRef
26. Reynoso RA, Hendl S, Barteik ME, Curet CA, Nicemboin L, Moreno Barral J, Rodr铆guez Ballesteros M, Del Castillo I: Genetic study of hearing loss in families from Argentina. / Rev Fac Cien Med Univ Nac Cordoba 2004, 61 (1) : 13鈥?9.
27. Starr A, Sininger Y, Winter M, Derebery MJ, Oba S, Michalewski HJ: Transient deafness due to temperature-sensitive auditory neuropathy. / Ear Hear 1998, 19 (3) : 169鈥?79. CrossRef
28. Smith MK, Wakimoto BT: Complex regulation and multiple developmental functions of misfire, the Drosophila melanogaster ferlin gene. / BMC Dev Biol 2007, 7: 21. CrossRef
29. The pre-publication history for this paper can be accessed here:http://www.biomedcentral.com/1471-2350/11/79/prepub - 作者单位：Da-Yong Wang (1)
Yi-Chen Wang (2) (2)
Dominique Weil (3)
Ya-Li Zhao (4)
Shao-Qi Rao (5)
Liang Zong (1)
Yu-Bin Ji (1)
Qiong Liu (1)
Jian-Qiang Li (1)
Huan-Ming Yang (2) (2)
Yan Shen (4) (7)
Cindy Benedict-Alderfer (6)
Qing-Yin Zheng (6)
Christine Petit (3)
Qiu-Ju Wang (1) (7)
1. Department of Otolaryngology/Head and Neck Surgery, Institute of Otolaryngology, Chinese PLA General Hospital, 28 Fuxing Road, 100853, Beijing, China
2. Beijing Institute of Genomics, Chinese Academy of Sciences, No.7 Beitucheng West Road, 100029, Beijing, Chaoyang District, China
2. China Graduate University of the Chinese Academy of Sciences, 19A Yu Quan Rd, 100049, Beijing, China
3. Unit茅 de G茅n茅tique et Physiologie de l'Audition, Institut Pasteur, Inserm U587, 25 rue du Docteur Roux, 75724, Paris Cedex 15, France
4. Department of Biochemistry and Molecular Biology, Institute of Basic Medical Sciences, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, China
5. Department of Medical Statistics and Epidemiology, School of Public Health, Sun Yat-Sen University, 510080, Guangzhou, China
7. Chinese National Human Genome Centre, 100176, Beijing, China
6. Department of Otolaryngology-HNS, Case Western Reserve University, 44106, Cleveland, Ohio, USA - ISSN：1471-2350
文摘
Background Mutations in OTOF gene, encoding otoferlin, cause DFNB9 deafness and non-syndromic auditory neuropathy (AN). The aim of this study is to identify OTOF mutations in Chinese patients with non-syndromic auditory neuropathy. Methods 73 unrelated Chinese Han patients with AN, including one case of temperature sensitive non-syndromic auditory neuropathy (TS-NSRAN) and 92 ethnicity-matched controls with normal hearing were screened. Forty-five pairs of PCR primers were designed to amplify all of the exons and their flanking regions of the OTOF gene. The PCR products were sequenced and analyzed for mutation identification. Results Five novel possibly pathogenic variants (c.1740delC, c.2975_2978delAG, c.1194T>A, c.1780G>A, c.4819C > T) were identified in the group of 73 AN patients, in which two novel mutant alleles (c.2975_2978delAG + c.4819C > T) were identified in one Chinese TS-NSRAN case. Besides, 10 non-pathogenic variants of the OTOF gene were found in AN patients and controls. Conclusions Screening revealed that mutations in the OTOF gene account for AN in 4 of 73(5.5%) sporadic AN patients, which shows a lower genetic load of that gene in contrast to the previous studies based on other populations. Notably, we found two novel mutant alleles related to temperature sensitive non-syndromic auditory neuropathy. This mutation screening study further confirms that the OTOF gene contributes to ANs and to TS-NSRAN.