Screening mutations of OTOF gene in Chinese patients with auditory neuropathy, including a familial case of temperature-sensitive auditory neuropathy

BMC Medical Genetics

Volumn 11, Issue 1, 2010, Pages

  Wang, Da Yong ^a   Wang, Yi Chen ^b   Weil, Dominique ^c   Zhao, Ya Li ^d   Rao, Shao Qi ^e   Zong, Liang ^a   Ji, Yu Bin ^a   Liu, Qiong ^a   Li, Jian Qiang ^a   Yang, Huan Ming ^b   Shen, Yan ^d,g   Benedict Alderfer, Cindy ^f   Zheng, Qing Yin ^f   Petit, Christine ^c   Wang, Qiu Ju ^a,g  

^a CHINESE PLA GENERAL HOSPITAL   (China)

^b Chinese Academy of Sciences and China National Center for Bioinformation   (China)

^c Institut Pasteur   (France)

^d INSTITUTE OF BASIC MEDICAL SCIENCES   (China)

^e SUN YAT SEN UNIVERSITY   (China)

^f CASE WESTERN RESERVE UNIVERSITY   (United States)

^g CHINESE NATIONAL HUMAN GENOME CENTER AT SHANGHAI   (China)

Author keywords

[No Author keywords available]

Indexed keywords

CHROMOSOME PROTEIN; OTOFERLIN; UNCLASSIFIED DRUG; MEMBRANE PROTEIN; OTOF PROTEIN, HUMAN;

ARTICLE; CHINESE; CONTROLLED STUDY; FAMILIAL DISEASE; FEMALE; FRAMESHIFT MUTATION; GENE MUTATION; GENETIC LOAD; GENETIC VARIABILITY; HETEROZYGOSITY; HUMAN; MAJOR CLINICAL STUDY; MALE; MISSENSE MUTATION; MUTATIONAL ANALYSIS; NUCLEOTIDE SEQUENCE; PERCEPTION DEAFNESS; POLYMERASE CHAIN REACTION; SEQUENCE ANALYSIS; TEMPERATURE SENSITIVE NONSYNDROMIC RECESSIVE AUDITORY NEUROPATHY; ANIMAL; ASIAN; CRICETULUS; EXON; FAMILY; GENETICS; HAMSTER; HEARING IMPAIRMENT; HEARING LOSS; MUTATION; TEMPERATURE;

ANIMALS; ASIAN CONTINENTAL ANCESTRY GROUP; BASE SEQUENCE; CRICETINAE; CRICETULUS; DEAFNESS; EXONS; FAMILY; HEARING LOSS; HUMANS; MEMBRANE PROTEINS; MUTATION; TEMPERATURE;

EID: 77952643063     PISSN: None     EISSN: 14712350     Source Type: Journal    
DOI: 10.1186/1471-2350-11-79     Document Type: Article

References (28)

1. Rance G. Auditory neuropathy/dys-synchrony and its perceptual consequences. Trends Amplif 2005, 9:1-43. 10.1177/108471380500900102, 15920648.
2. Starr A, Picton TW, Sininger Y, Hood LJ, Berlin CI. Auditory neuropathy. Brain 1996, 119(Pt 3):741-753. 10.1093/brain/119.3.741, 8673487.
3. Starr A, Sininger YS, Pratt H. The varieties of auditory neuropathy. J Basic Clin Physiol Pharmacol 2000, 11(3):215-230.
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):1135-1150. 10.1016/j.ijporl.2008.04.004, 18502518.
5. Madden C, Rutter M, Hilbert L, Greinwald JH, Choo DI. Clinical and audiological features in auditory neuropathy. Arch Otolaryngol Head Neck Surg 2002, 128(9):1026-1030.
6. Willems PJ. Genetic causes of hearing loss. N Engl J Med 2000, 342(15):1101-1109. 10.1056/NEJM200004133421506, 10760311.
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 2p22-23. Hum Mol Genet 1996, 5(1):155-158. 10.1093/hmg/5.1.155, 8789454.
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):591-600. 10.1086/303049, 1287519, 10903124.
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):45-50. 10.1136/jmg.40.1.45, 1735255, 12525542.
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):382-385. 10.1038/jhg.2009.45, 19461658.
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):823-831. 10.1002/humu.20708, 18381613.
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):571-577. 10.1002/humu.20478, 17301963.
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):770-778. 10.1038/ng1829, 16804542.
14. Wang Q, Li R, Zhao H, Peters JL, Liu Q, Yang L, Han D, Greinwald JH, 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):27-30. 10.1002/ajmg.a.30424, 1371058, 15637703.
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 Xq23-27.3. J Med Genet 2006, 43(7):e33. 10.1136/jmg.2005.037929, 2564562, 16816020.
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):237-243. 10.1111/j.1399-0004.2008.01128.x, 19250381.
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):277-289. 10.1016/j.cell.2006.08.040, 17055430.
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(1-2):21-28. 10.1016/j.heares.2007.09.005, 2140949, 17967520.
19. Achanzar WE, Ward S. A nematode gene required for sperm vesicle fusion. J Cell Sci 1997, 110(Pt 3):1073-1081.
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):363-369. 10.1038/7693, 10192385.
21. Parsons TD. Neurobiology: auditory fidelity. Nature 2006, 444(7122):1013-1014. 10.1038/4441013a, 17183302.
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):157-164. 10.1006/nbdi.2002.0488, 12127154.
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):576-581. 10.1136/jmg.2005.038612, 2593030, 16371502.
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):21-26.
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):502-506. 10.1136/jmg.39.7.502, 1735186, 12114484.
26. Reynoso RA, Hendl S, Barteik ME, Curet CA, Nicemboin L, Moreno Barral J, Rodríguez Ballesteros M, Del Castillo I. Genetic study of hearing loss in families from Argentina. Rev Fac Cien Med Univ Nac Cordoba 2004, 61(1):13-19.
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):169-179. 10.1097/00003446-199806000-00001, 9657592.
28. Smith MK, Wakimoto BT. Complex regulation and multiple developmental functions of misfire, the Drosophila melanogaster ferlin gene. BMC Dev Biol 2007, 7:21. 10.1186/1471-213X-7-21, 1853072, 17386097.