Genetics of isolated auditory neuropathies

Frontiers in Bioscience

Volumn 17, Issue 4, 2012, Pages 1251-1265

  Del Castillo, Francisco J ^a,b   Del Castillo, Ignacio ^a,b  

^a HOSPITAL RAMÓN Y CAJAL   (Spain)

^b CENTRO DE INVESTIGACIÓN BIOMÉDICA EN RED DE ENFERMEDADES RARAS CIBERER   (Spain)

Author keywords

Auditory neuropathy; AUNA1; Connexin 26; DFNB59; DFNB9; Diaphanous 3; Mitochondrial 12S rRNA; Otoferlin; Pejvakin; Review

Indexed keywords

CLASSIFICATION; GENETIC PREDISPOSITION; GENETICS; HEARING LOSS; HUMAN; MUTATION; REVIEW; VESTIBULOCOCHLEAR NERVE DISEASE;

GENETIC PREDISPOSITION TO DISEASE; HEARING LOSS, CENTRAL; HUMANS; MUTATION;

EID: 84859237086     PISSN: 27686701     EISSN: 27686698     Source Type: Journal    
DOI: 10.2741/3984     Document Type: Review

References (81)

1. Joseph B. Nadol: Hearing loss. N Engl J Med 329, 1092- 1102 (1993).
2. Amiel A. Dror and Karen B. Avraham: Hearing loss: mechanisms revealed by genetics and cell biology. Annu Rev Genet 43, 411-437 (2009).
3. Nele Hilgert, Richard J.H. Smith and Guy Van Camp: Function and expression pattern of nonsyndromic deafness genes. Curr Mol Med 9, 546-564 (2009).
4. Thomas B. Friedman, Julie M. Schultz, Tamar Ben-Yosef, Shannon P. Pryor, Ayala Lagziel, Rachel A. Fisher, Edward R. Wilcox, Saima Riazuddin, Zubair M. Ahmed, Inna A. Belyantseva and Andrew J. Griffith: Recent advances in the understanding of syndromic forms of hearing loss. Ear Hear 24, 289-302 (2003). (Pubitemid 37022141)
5. Maria Bitner-Glindzicz: Hereditary deafness and phenotyping in humans. Br Med Bull 63, 73-94 (2002). (Pubitemid 35175752)
6. Shelley D. Smith and Lee A. Harker: Single gene influences on radiologically-detectable malformations of the inner ear. J Commun.Disord 31, 391-410 (1998). (Pubitemid 28440762)
7. Arnold Starr, Terence W. Picton, Yvonne Sininger, Linda J. Hood and Charles I. Berlin: Auditory neuropathy. Brain 119, 741-753 (1996). (Pubitemid 26237173)
8. Barbara Cone-Wesson and Gary Rance: Auditory neuropathy: a brief review. Curr Opin Otolaryngol Head Neck Surg 8, 421-425 (2000). (Pubitemid 32269430)
9. Arnold Starr, Yvonne S. Sininger and Hillel Pratt: The varieties of auditory neuropathy. J Basic Clin Physiol Pharmacol 11, 215-230 (2000).
10. Gary Rance: Auditory neuropathy/dys-synchrony and its perceptual consequences. Trends Amplif 9, 1-43 (2005). (Pubitemid 40789966)
11. Fan-Gang Zeng, Sandy Oba, Smita Garde, Yvonne Sininger and Arnold Starr: Temporal and speech processing deficits in auditory neuropathy. Neuroreport 10, 3429-3435 (1999).
12. Charles I. Berlin, Linda J. Hood and Kelly Rose: On renaming auditory neuropathy as auditory dys-synchrony. Audiol Today 13, 15-17 (2001).
13. Yvonne S. Sininger: Identification of auditory neuropathy in infants and children. Sem Hear 23, 193-200 (2002). (Pubitemid 35014583)
14. Charles I. Berlin, Linda J. Hood, Thierry Morlet, Diane Wilensky, Li Li, Kelly R. Mattingly, Jennifer Taylor-Jeanfreau, Bronya J.B. Keats, Patti St. John, Elizabeth Montgomery, Jon K. Shallop, Benjamin A. Russell and Stefan A. Frisch: Multi-site diagnosis and management of 260 patients with auditory neuropathy/dys-synchrony (auditory neuropathy spectrum disorder). Int J Audiol 49, 30-43 (2010).
15. Isabelle Rapin and Judith Gravel:Auditory neuropathy physiologic and pathologic evidence calls for more diagnostic specificity. Int J Pediatr Otorhinolaryngol 67, 707-728 (2003). (Pubitemid 36677535)
16. Isabelle Roux, Saaid Safieddine, Regis Nouvian, M'hamed Grati, Marie-Christine Simmler, Amel Bahloul, Isabelle Perfettini, Morgane LeGall, Philippe Rostaing, Ghislaine Hamard, Antoine Triller, Paul Avan, Tobias Moser, and Christine Petit: Otoferlin, defective in a human deafness form, is essential for exocytosis at the auditory ribbon synapse. Cell 127, 277-289 (2006). (Pubitemid 44572372)
17. William P.R. Gibson and John M. Graham: 'Auditory neuropathy' and cochlear implantation - myths and facts. Cochlear Implants Int 9, 1-7 (2008).
18. Hassan Chaib, Christopher Place, Nabiha Salem, Sebastien Chardenoux, Christophe Vincent, Jean Weissenbach, Elie El-Zir, Jacques Loiselet and Christine Petit: A gene responsible for a sensorineural nonsyndromic recessive deafness maps to chromosome 2p22-23. Hum Mol Genet 5, 155-158 (1996).
19. Shin'ichiro Yasunaga, M'hamed Grati, Martine Cohen-Salmon, Aziz El-Amraoui, Mirna Mustapha, Nabiha Salem, Elie El-Zir, Jacques Loiselet and Christine Petit: A mutation in OTOF, encoding otoferlin, a FER-1-like protein, causes DFNB9, a nonsyndromic form of deafness. Nat Genet 21, 363-369 (1999). (Pubitemid 29159571)
20. Renee Varga, Philip M. Kelley, Bronya J. Keats, Arnold Starr, Suzanne M. Leal, Edward Cohn and William J. Kimberling: Non-syndromic recessive auditory neuropathy is the result of mutations in the otoferlin (OTOF) gene. J Med Genet 40, 45-50 (2003). (Pubitemid 36115125)
21. Montserrat Rodriguez-Ballesteros, Francisco J. del Castillo, Yolanda Martin, Miguel A. Moreno-Pelayo, Constantino Morera, Felix Prieto, Jaime Marco, Antonio Morant, Jaime Gallo-Teran, Carmelo Morales-Angulo, Cristina Navas, German Trinidad, Mari-Cruz Tapia, Felipe Moreno and Ignacio del Castillo: Auditory neuropathy in patients carrying mutations in the otoferlin gene (OTOF). Hum Mutat 22, 451-456 (2003). (Pubitemid 38009948)
22. Shin'ichiro Yasunaga, M'hamed Grati, Sebastien Chardenoux, Tenesha N. Smith, Thomas B. Friedman, Anil K. Lalwani, Edward R. Wilcox and Christine Petit: OTOF encodes multiple long and short isoforms: genetic evidence that the long ones underlie recessive deafness DFNB9. Am J Hum Genet 67, 591-600 (2000). (Pubitemid 30659590)
23. Byung Y. Choi, Zubair M. Ahmed, Saima Riazuddin, M.A. Bhinder, Mohsin Shahzad, Tayyab Husnain, Sheikh Riazuddin, Andrew J. Griffith and Thomas B. Friedman: Identities and frequencies of mutations of the otoferlin gene (OTOF) causing DFNB9 deafness in Pakistan. Clin Genet 75, 237-243 (2009).
24. Josep Rizo and Thomas C. Sudhof: C2-domains, structure and function of a universal calcium-binding domain. J Biol Chem 273, 15879-15882 (1998). (Pubitemid 28311347)
25. Jose L. Jimenez and Rumaisa Bashir: In silico functional and structural characterisation of ferlin proteins by mapping disease-causing mutations and evolutionary information onto three-dimensional models of their C2 domains. J Neurol Sci 260, 114-123 (2007). (Pubitemid 47225087)
26. Nicola Schug, Claudia Braig, Ulrike Zimmermann, Jutta Engel, Harald Winter, Peter Ruth, Nikolaus Blin, Markus Pfister, Hubert Kalbacher and Marlies Knipper: Differential expression of otoferlin in brain, vestibular system, immature and mature cochlea of the rat. Eur J Neurosci 24, 3372-3380 (2006). (Pubitemid 44952603)
27. Regis Nouvian, Dirk Beutner, Thomas D. Parsons and Tobias Moser: Structure and function of the hair cell ribbon synapse. J Membrane Biol 209, 153-165 (2006). (Pubitemid 43886878)
28. Neeliyath A. Ramakrishnan, Marian J. Drescher and Dennis G. Drescher: Direct interaction of otoferlin with syntaxin 1A, SNAP-25, and the L-type voltage-gated calcium channel Cav1.3. J Biol Chem 284, 1364-1372 (2009).
29. Paulina Heidrych, Ulrike Zimmermann, Andreas Bress, Carsten M. Pusch, Peter Ruth, Markus Pfister, Marlies Knipper and Nikolaus Blin: Rab8b GTPase, a protein transport regulator, is an interacting partner of otoferlin, defective in a human autosomal recessive deafness form. Hum Mol Genet 17, 3814-3821 (2008).
30. Paulina Heidrych, Ulrike Zimmermann, Stephanie Kuhn, Christoph Franz, Jutta Engel, Susanne V. Duncker, Bernhard Hirt, Carsten M. Pusch, Peter Ruth, Markus Pfister, Walter Marcotti, Nikolaus Blin and Marlies Knipper: Otoferlin interacts with myosin VI: implications for maintenance of the basolateral synaptic structure of the inner hair cell. Hum Mol Genet 18, 2779-2790 (2009).
31. Martin Schwander, Anna Sczaniecka, Nicolas Grillet, Janice S. Bailey, Matthew Avenarius, Hossein Najmabadi, Brian M. Steffy, Glenn C. Federe, Erica A Lagler, Raheleh Banan, Rudy Hice, Laura Grabowski-Boase, Elisabeth M. Keithley, Allen F. Ryan, Gary D. Housley, Tim Wiltshire, Richard J.H. Smith, Lisa M Tarantino and Ulrich Müller: A forward genetics screen in mice identifies recessive deafness traits and reveals that pejvakin is essential for outer hair cell function. J Neurosci 27, 2163-2175 (2007). (Pubitemid 46340972)
32. Chantal Longo-Guess, Leona H. Gagnon, David E. Bergstrom and Kenneth R. Johnson: A missense mutation in the conserved C2B domain of otoferlin causes deafnessin a new mouse model of DFNB9. Hear Res 234, 21-28 (2007). (Pubitemid 350088327)
33. Maryline Beurg, Saaid Safieddine, Isabelle Roux, Yohan Bouleau, Christine Petit and Didier Dulon: Calciumand otoferlin-dependent exocytosis by immature outer hair cells. J Neurosci 28, 1798-1803 (2008). (Pubitemid 351302659)
34. Didier Dulon, Saaid Safieddine, Sherri M. Jones and Christine Petit: Otoferlin is critical for a highly sensitive and linear calcium-dependent exocytosis at vestibular hair cell ribbon synapses. J Neurosci 29, 10474-10487 (2009).
35. Tina Pangrsic, Livia Lasarow, Kirsten Reuter, Hideki Takago, Martin Schwander, Dietmar Riedel, Thomas Frank, Lisa M. Tarantino, Janice S. Bailey, Nicola Strenzke, Nils Brose, Ulrich Müller, Ellen Reisinger and Tobias Moser: Hearing requires otoferlin-dependent efficient replenishment of synaptic vesicles in hair cells. Nat Neurosci 13, 869-876 (2010).
36. Vanessa Migliosi, Silvia Modamio-Hoybjor, Miguel A. Moreno-Pelayo, Montserrat Rodriguez-Ballesteros, Manuela Villamar, Dolores Telleria, Ibis Menendez, Felipe Moreno and Ignacio del Castillo: 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 39, 502-506 (2002). (Pubitemid 34787745)
37. Suzanne M. Leal, Fazil Apaydin, Carol Barnwell, Metin Iber, Tolga Kandogan, Markus Pfister, Uwe Braendle, Orhan Cura, Marvin Schwalb, Hans-Peter Zenner and Emilia Vitale: A second Middle Eastern kindred with autosomal recessive non-syndromic hearing loss segregates DFNB9. Eur J Hum Genet 6, 341-344 (1998). (Pubitemid 28395795)
38. Avital Adato, Leonid Raskin, Christine Petit and Batsheva Bonne-Tamir: Deafness heterogeneity in a Druze isolate from the Middle East: novel OTOF and PDS mutations, low prevalence of GJB2 35delG mutation and indication for a new DFNB locus. Eur J Hum Genet 8, 437-442 (2000). (Pubitemid 30364823)
39. Mark J. Houseman, Andrew P. Jackson, Lihadh I. Al-Gazali, Romina A. Badin, Emma Roberts and Robert F. Mueller: A novel mutation in a family with non-syndromic sensorineural hearing loss that disrupts the newly characterised OTOF long isoforms. J Med Genet 38, e25 (2001).
40. Farhad Mirghomizadeh, Markus Pfister, Fazil Apaydin, Christine Petit, Susan Kupka, Carsten M. Pusch, Hans P. Zenner and Nikolaus Blin: Substitutions in the conserved C2C domain of otoferlin cause DFNB9, a form of nonsyndromic autosomal recessive deafness. Neurobiol Dis 10, 157-164 (2002). (Pubitemid 34775469)
41. Tim Hutchin, Coy NN, Conlon H, Telford E, Bromelow K, Blaydon D, Taylor G, Coghill E, Brown S, Trembath R, Liu XZ, Maria Bitner-Glindzicz and Robert Mueller: Assessment of the genetic causes of recessive childhood non-syndromic deafness in the UK - implications for genetic testing. Clin Genet 68, 506-512 (2005). (Pubitemid 41748849)
42. Hashem Shahin, Tom Walsh, Amal A. Rayyan, Ming K. Lee, Jake Higgins, Diane Dickel, Kristen Lewis, James Thompson, Carl Baker, Alex S. Nord, Sunday Stray, David Gurwitz, Karen B. Avraham, Mary-Claire King and Moien Kanaan: Five novel loci for inherited hearing loss mapped by SNP-based homozygosity profiles in Palestinian families. Eur J Hum Genet 18, 407-413 (2010).
43. Mustafa Tekin, Duygu Akcayoz and Armagan Incesulu: A novel missense mutation in a C2 domain of OTOF results in autosomal recessive auditory neuropathy. Am J Med Genet 138A, 6-10 (2005). (Pubitemid 41262636)
44. Isabelle Rouillon, Aurore Marcolla, Isabelle Roux, Sandrine Marlin, Delphine Feldmann, Remy Couderc, Laurence Jonard, Christine Petit, Francoise Denoyelle, Erea N. Garabedian and Natalie Loundon: Results of cochlear implantation in two children with mutations in the OTOF gene. Int J Pediatr Otorhinolaryngol 70, 689-696 (2006). (Pubitemid 43287832)
45. Renee Varga, Matthew R. Avenarius, Philip M. Kelley, Bronya J. Keats, Linda J. Hood, Charles I. Berlin, Thierry G. Morlet, Shanda M. Brashears, Arnold Starr, Edward S. Cohn, Richard J. Smith and William J. Kimberling: OTOF mutations revealed by genetic analysis of hearing loss families including a potential temperature-sensitive auditory neuropathy allele. J Med Genet 43, 576-581 (2006). (Pubitemid 44048764)
46. Montserrat Rodriguez-Ballesteros, Raul Reynoso, Margarita Olarte, Manuela Villamar, Constantino Morera, Rosamaria Santarelli, Edoardo Arslan, Carme Meda, Carlos Curet, Christiane Volter, Manuel Sainz-Quevedo, Pierangela Castorina, Umberto Ambrosetti, Stefano Berrettini, Klemens Frei, Socorro Tedin, Janine Smith, Mari-Cruz Tapia, Laura Cavalle, Nancy Gelvez, Paola Primignani, Elena Gomez-Rosas, Mirta Martin, Miguel A. Moreno-Pelayo, Martalucia Tamayo, Jose Moreno-Barral, Felipe Moreno and Ignacio del Castillo: A multicenter study on the prevalence and spectrum of mutations in the otoferlin gene (OTOF) in subjects with non-syndromic hearing impairment and auditory neuropathy. Hum Mutat 29, 823-831 (2008). (Pubitemid 351794133)
47. Jihane Romanos, Lilian Kimura, Mariana Lopes-Favero, Fernanda A.R. Izarra, Maria-Teresa Balester de Mello, Ana C. Batissoco, Karina Lezirovitz, Ronaldo S. Abreu-Silva and Regina C. Mingroni-Netto: Novel OTOF mutations in Brazilian patients with auditory neuropathy. J Hum Genet 54, 382-385 (2009).
48. Rosamaria Santarelli, Ignacio del Castillo, Montserrat Rodríguez-Ballesteros, Pietro Scimemi, Elona Cama, Edoardo Arslan and Arnold Starr: Abnormal cochlear potentials from deaf patients with mutations in the otoferlin gene. J Assoc Res Otolaryngol 10, 545-556 (2009).
49. Yu-Hsun Chiu, Chen-Chi Wu, Ying-Chang Lu, Pei-Jer Chen, Wen-Yuan Lee, Alyssa Y.Z. Liu and Chuan-Jen Hsu: Mutations in the OTOF gene in Taiwanese patients with auditory neuropathy. Audiol Neurotol 15, 364-374 (2010).
50. Sandrine Marlin, Delphine Feldmann, Yann Nguyen, Isabelle Rouillon, Natalie Loundon, Laurence Jonard, Crystel Bonnet, Remy Couderc, Erea N. Garabedian, Christine Petit and Francoise Denoyelle: Temperaturesensitive auditory neuropathy associated with an otoferlin mutation: Deafening fever! Biochem Biophys Res Communt 394, 737-742 (2010).
51. Da-Yong Wang, Yi-Chen Wang, Dominique Weil, Ya- Li Zhao, Shao-Qi Rao, Liang Zong, Yu-Bin Ji, Qiong Liu, Jian-Qiang Li, Huan-Ming Yang, Yan Shen, Cindy Benedict-Alderfer, Qing-Yin Zheng, Christine Petit and Qiu-Ju Wang: Screening mutations of the OTOF gene in Chinese patients with auditory neuropathy, including a familial case of temperature-sensitive auditory neuropathy. BMC Med Genet 11, 79 (2010).
52. Cristina Zadro, Andrea Ciorba, Annalisa Fabris, Marcello Morgutti, Patrizia Trevisi, Paolo Gasparini and Alessandro Martini: Five new OTOF gene mutations and auditory neuropathy. Int J Pediatr Otorhinolaryngol 74, 494-498 (2010).
53. Arnold Starr, Yvonne Sininger, M. Winter, M. Jennifer Derebery, Sandy Oba and Henry J. Michalewski: Transient deafness due to temperature-sensitive auditory neuropathy. Ear Hear 19, 169-179 (1998). (Pubitemid 28285597)
54. Sedigheh Delmaghani, Francisco J. del Castillo, Vincent Michel, Michel Leibovici, Asadollah Aghaie, Uri Ron, Lut Van Laer, Nir Ben-Tal, Guy Van Camp, Dominique Weil, Francina Langa, Mark Lathrop, Paul Avan and Christine Petit: Mutations in the gene encoding pejvakin, a newly identified protein of the afferent auditory pathway, cause DFNB59 auditory neuropathy. Nat Genet 38, 770-778 (2006). (Pubitemid 43980597)
55. Masaru Tamura, Shigekazu Tanaka, Tomoaki Fujii, Aya Aoki, Hiromitu Komiyama, Kiyoshi Ezawa, Kenta Sumiyama, Tomoko Sagai and Toshihiko Shiroishi: Members of a novel gene family, Gsdm, are expressed exclusively in the epithelium of the skin and gastrointestinal tract in a highly tissue-specific manner. Genomics 89, 618-629 (2007). (Pubitemid 46604751)
56. Lut Van Laer, Egbert H. Huizing, Margriet Verstreken, Diederick van Zuijlen, Jan G. Wauters, Paul J. Bossuyt, Paul Van de Heyning, Wyman T. McGuirt, Richard J.H. Smith, Patrick J. Willems, P. Kevin Legan, Guy P. Richardson and Guy Van Camp: Nonsyndromic hearing impairment is associated with a mutation in DFNA5. Nat Genet 20, 194-197 (1998). (Pubitemid 28455455)
57. Inga Ebermann, Martin Walger, Hendrik P.N. Scholl, Peter Charbel Issa, Christoph Lüke, Gudrun Nürnberg, Ruth Lang-Roth, Christian Becker, Peter Nürnberg and Hanno J. Bolz: Truncating mutation of the DFNB59 gene causes cochlear hearing impairment and central vestibular dysfunction. Hum Mutat 28, 571-577 (2007). (Pubitemid 46744287)
58. Rob W.J. Collin, Ersan Kalay, Jaap Oostrik, Refik Caylan, Bernd Wollnik, Selcuk Arslan, Anneke I. den Hollander, Yelda Birinci, Peter Lichtner, Tim M. Strom, Bayram Toraman, Lies H. Hoefsloot, Cor W.R.J Cremers, Han G. Brunner, Frans P.M. Cremers, Ahmet Karaguzel and Hannie Kremer: Involvement of DFNB59 mutations in autosomal recessive nonsyndromic hearing impairment. Hum Mutat 28, 718-723 (2007). (Pubitemid 47047299)
59. Morteza Hashemzadeh Chaleshtori, Michael A. Simpson, Effat Farrokhi, Masoumeh Dolati, Laleh Hoghooghi Rad, Soroush Amani Geshnigani and Andrew H. Crosby: Novel mutations in the pejvakin gene are associated with autosomal recessive non-syndromic hearing loss in Iranian families. Clin Genet 72, 261-263 (2007). (Pubitemid 47300030)
60. Els M.R. De Leenheer, Diederick A van Zuijlen, Lut Van Laer, Guy Van Camp, Patrick L.M. Huygen, Egbert H. Huizing and Cor W.R.J. Cremers: Clinical features of DFNA5. Adv Otorhinolaryngol 61, 53-59 (2002).
61. Els M.R. De Leenheer, Diederick A van Zuijlen, Lut Van Laer, Guy Van Camp, Patrick L.M. Huygen, Egbert H. Huizing and Cor W.R.J. Cremers: Further delineation of the DFNA5 phenotype: results of speech recognition tests. Ann Otol Rhinol Laryngol 111, 639-41 (2002). (Pubitemid 34760812)
62. Arnold Starr, Brandon Isaacson, Henry J. Michalewski, Fan-Gang Zeng, Ying-Yee Kong, Paula Beale, George W. Paulson, Bronya J.B. Keats and Marci M. Lesperance: A dominantly inherited progressive deafness affecting distal auditory nerve and hair cells. J Assoc Res Otolaryngol 5, 411- 426 (2004). (Pubitemid 40248241)
63. Theresa B. Kim, Brandon Isaacson, Theru A. Sivakumaran, Arnold Starr, Bronya J.B. Keats and Marci M. Lesperance: A gene responsible for autosomal dominant auditory neuropathy (AUNA1) maps to 13q14-21. J Med Genet 41, 872-876 (2004). (Pubitemid 39524316)
64. Cynthia J. Schoen, Sarah B. Emery, Marc C. Thorne, Hima R. Ammana, Elzbieta Sliwerska, Jameson Arnett, Michael Hortsch, Frances Hannand, Margit Burmeister and Marci M. Lesperance: Increased activity of Diaphanous homolog 3 (DIAPH3)/diaphanous causes hearing defects in humans with auditory neuropathy and in Drosophila. Proc Natl Acad Sci USA 107, 13396-13401 (2010).
65. Masuko Katoh and Masaru Katoh: Identification and characterization of human DIAPH3 gene in silico. Int J Mol Med 13, 473-478 (2004).
66. André Schönichen and Matthias Geyer: Fifteen formins for an actin filament: A molecular view on the regulation of human formins. Biochim Biophys Acta 1803, 152-163 (2010).
67. Pirta Hotulainen, Olaya Llano, Sergei Smirnov, Kimmo Tanhuanpää , Jan Faix, Claudio Rivera and Pekka Lappalainen: Defining mechanisms of actin polymerization and depolymerization during dendritic spine morphogenesis. J Cell Biol 185, 323-339 (2009)
68. David P. Kelsell, J. Dunlop, Howard P. Stevens, Nicholas J. Lench, J.N. Liang, G. Parry, Robert F. Muellerand Irene M. Leigh: Connexin 26 mutations in hereditary nonsyndromic sensorineural deafness. Nature 387, 80-83 (1997). (Pubitemid 27202653)
69. Aileen Kenneson, Kim Van Naarden Braun and Coleen Boyle: GJB2 (connexin 26) variants and nonsyndromic sensorineural hearing loss: A HuGE review. Genet Med 4, 258-274 (2002). (Pubitemid 44698560)
70. Stephen W. Hone and Richard J.H. Smith: Genetic screening for hearing loss. Clin Otolaryngol 28, 285-290 (2003). (Pubitemid 36960264)
71. Xing Chen, Li Li, Shanda Brashears, Thierry Morlet, San S. Ng, Charles Berlin, Linda Hood and Bronya Keats: Connexin 26 variants and auditory neuropathy/dyssynchrony among children in schools for the deaf. Am J Med Genet 139A, 13-18 (2005). (Pubitemid 41532933)
72. Rosamaria Santarelli, Elona Cama, Pietro Scimemi, Erica Dal Monte, Elisabetta Genovese and Edoardo Arslan: Audiological and electrocochleography findings in hearingimpaired children with connexin 26 mutations and otoacoustic emissions. Eur Arch Otorhinolaryngol 265, 43- 51 (2008). (Pubitemid 350160364)
73. Martine Cohen-Salmon, Thomas Ott, Vincent Michel, Jean-Pierre Hardelin, Isabelle Perfettini, Michel Eybalin, Tao Wu, Daniel C. Marcus, Philine Wangemann, Klaus Willecke and Christine Petit: Targeted ablation of connexin 26 in the inner ear epithelial gap junction network causes hearing impairment and cell death. Curr Biol 12, 1106- 1111 (2002). (Pubitemid 34766932)
74. Andrew I. Jun, Wyman T. McGuirt, Raul Hinojosa, Glenn E. Green, Nathan Fischel-Ghodsian and Richard J. H. Smith: Temporal bone histopathology in connexin26- related hearing loss. Laryngoscope 110, 269-275 (2000). (Pubitemid 30090860)
75. Haris Kokotas, Michael B. Petersen and Patrick J. Willems. Mitochondrial deafness. Clin Genet 71, 379-391 (2007). (Pubitemid 46730646)
76. Dominic Thyagarajan, Susan Bressman, Claudio Bruno, Serge Przedborski, Sara Shanske, Timothy Lynch, Stanley Fahn and Salvatore DiMauro: A novel mitochondrial 12S rRNA point mutation in parkinsonism, deafness, and neuropathy. Ann Neurol 48, 730-736 (2000).
77. Alessandro Tessa, Aldo Giannotti, Luigi Tieri, Laura Vilarinho, Giacomo Marotta and Filipo M. Santorelli: Maternally inherited deafness associated with a T1095C mutation in the mtDNA. Eur J Hum Genet 9, 147-149 (2001). (Pubitemid 32156697)
78. Qiuju Wang, Ronghua Li, Hui Zhao, Jennifer L. Peters, Qiong Liu, Li Yang, Dongyi Han, John H. Greinwald Jr, Wie-Yen Young and Min-Xin Guan: Clinical and molecular characterization of a Chinese patient with auditory neuropathy associated with mitochondrial 12S rRNA T1095C mutation. Am J Med Genet 133A, 27-30 (2005). (Pubitemid 40175560)
79. Yong-Gang Yao, Antonio Salas, Claudio M. Bravi and Hans-Jurgen Bamdelt: A reappraisal of complete mtDNA variation in East Asian families with hearing impairment. Hum Genet 119, 505-515 (2006).
80. Colin P. Johnson and Edwin R. Chapman: Otoferlin is a calcium sensor that directly regulates SNARE-mediated membrane fusion. J Cell Biol 191, 187-197 (2010).
81. Sarah Helfmann, Piotr Neumann, Kai Tittmann, Tobias Moser, Ralf Ficner and Ellen Reisinger: The crystal structure of the C2A domain of otoferlin reveals an unconventional top loop region. J Mol Biol 406, 479-490 (2011).