The Genetic Basis of Auditory Neuropathy Spectrum Disorder
-
Majid Karimi
,
Mohsen Ahadi
,
Mohammad Ajalloueyan
,
Nader saki
,
Saeid Morovvati
,
Golshan Mirmomeni
Abstract
Background: Auditory neuropathy spectrum disorder (ANSD) disrupts neural coordination despite normal outer hair cell function, impairing speech comprehension, especially in noisy environments.
Objectives: This review explores the genetic mechanisms underlying ANSD.
Methods: PubMed, Scopus, and Web of Science were searched from 2010 to 2023 for studies on ANSD genetics, excluding those focused on non-genetic causes or lacking relevant data.
Results: ANSD is associated with conditions such as Brown-Vialetto-Van Laere Syndrome and Charcot-Marie-Tooth disease, often resulting from mutations in the auditory nerve. Non-syndromic ANSD is associated with genes such as OTOF and PJVK, which are essential for neural function.
Conclusions: ANSD is a multifactorial condition resulting from genetic mutations in key genes, which disrupt auditory pathways and impair sound signal transmission. Further research is needed to identify additional genes and understand molecular mechanisms contributing to ANSD. This knowledge will improve diagnosis, prognosis, and therapeutic strategies, and could lead to innovative treatment approaches in the future.
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7. Mittal R, Ramesh AV, Panwar SS, Nilkanthan A, Nair S, Mehra PR. Auditory neuropathy spectrum disorder: Its prevalence and audiological characteristics in an Indian tertiary care hospital. Int J Pediatr Otorhinolaryngol. 2012 Sep;76(9):1351–4.
8. Penido RC, Isaac ML. Prevalence of auditory neuropathy spectrum disorder in an auditory health care service. Braz J Otorhinolaryngol. 2013 May;79(4):429–33.
9. Almishaal AA, Saleh S, Alferaih H, Alhelo O. Prevalence, risk factors, and audiological characteristics of auditory neuropathy. Int J Audiol. 2022 Dec 2;61(12):1018–26.
10. Rajput K, Saeed M, Ahmed J, Chung M, Munro C, Patel S, et al. Findings from aetiological investigation of Auditory Neuropathy Spectrum Disorder in children referred to cochlear implant programs. Int J Pediatr Otorhinolaryngol. 2019 Jan;116:79–83.
11. Manchaiah VKC, Zhao F, Danesh AA, Duprey R. The genetic basis of auditory neuropathy spectrum disorder (ANSD). Int J Pediatr Otorhinolaryngol. 2011 Feb;75(2):151–8.
12. Sathasivam S. Brown-Vialetto-Van Laere syndrome. Orphanet J Rare Dis. 2008 Dec 17;3(1):9.
13. Bamaga AK, Maamari RN, Culican SM, Shinawi M, Golumbek PT. Child Neurology: Brown-Vialetto-Van Laere syndrome. Neurology. 2018 Nov 13;91(20):938–41.
14. Woodcock IR, Menezes MP, Coleman L, Yaplito-Lee J, Peters H, White SM, et al. Genetic, Radiologic, and Clinical Variability in Brown-Vialetto-van Laere Syndrome. Semin Pediatr Neurol. 2018 Jul;26:2–9.
15. Chandran R, Alexander M, Naina P, Balraj A. Auditory neuropathy spectrum disorder with Brown–Vialetto–Van Laere syndrome: challenges in hearing rehabilitation. J Laryngol Otol. 2015 May 21;129(5):504–8.
16. Reilly MM, Murphy SM, Laurá M. Charcot‐Marie‐Tooth disease. Journal of the Peripheral Nervous System. 2011 Mar 19;16(1):1–14.
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19. Giuliani N, Holte L, Shy M, Grider T. The audiologic profile of patients with Charcot-Marie Tooth neuropathy can be characterised by both cochlear and neural deficits. Int J Audiol. 2019 Dec 2;58(12):902–12.
20. Pérez H, Vílchez J, Sevilla T, Martínez L. Audiologic evaluation in Charcot-Marie-Tooth disease. Scand Audiol Suppl. 1988;30:211–3.
21. Sivera R, Cavalle L, Vílchez JJ, Espinós C, Pérez-Garrigues H, Sevilla T. Audiological Findings in Charcot–Marie–Tooth Disease Type 4C. J Int Adv Otol. 2017 May 29;13(1):93–9.
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32. Marlin S, Chantot-Bastaraud S, David A, Loundon N, Jonard L, Portnoï MF, et al. Discovery of a Large Deletion of KAL1 in 2 Deaf Brothers. Otology & Neurotology. 2013 Dec;34(9):1590–4.
33. Hill J, Elliott C, Colquhoun I. Audiological, vestibular and radiological abnormalities in Kallman’s syndrome. J Laryngol Otol. 1992 Jun 29;106(6):530–4.
34. Zentner GE, Layman WS, Martin DM, Scacheri PC. Molecular and phenotypic aspects of CHD7 mutation in CHARGE syndrome. Am J Med Genet A. 2010 Mar 22;152A(3):674–86.
35. Sanlaville D, Verloes A. CHARGE syndrome: an update. European Journal of Human Genetics. 2007 Apr 14;15(4):389–99.
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37. Birman CS, Brew JA, Gibson WPR, Elliott EJ. CHARGE syndrome and Cochlear implantation: Difficulties and outcomes in the paediatric population. Int J Pediatr Otorhinolaryngol. 2015 Apr;79(4):487–92.
38. Cole TRP. Sotos Syndrome. In: Management of Genetic Syndromes. Wiley; 2010. p. 769–86.
39. Baujat G, Cormier-Daire V. Sotos syndrome. Orphanet J Rare Dis. 2007 Dec 7;2(1):36.
40. Rajput K, Saeed M, Ahmed J, Chung M, Munro C, Patel S, et al. Findings from aetiological investigation of Auditory Neuropathy Spectrum Disorder in children referred to cochlear implant programs. Int J Pediatr Otorhinolaryngol. 2019 Jan;116:79–83.
41. Gaudreau P, Zizak V, Gallagher TQ. The otolaryngologic manifestations of Sotos syndrome. Int J Pediatr Otorhinolaryngol. 2013 Nov;77(11):1861–3.
42. Duat Rodriguez A, Prochazkova M, Santos Santos S, Rubio Cabezas O, Cantarin Extremera V, Gonzalez-Gutierrez-Solana L. Early Diagnosis of CAPOS Syndrome Before Acute-Onset Ataxia—Review of the Literature and a New Family. Pediatr Neurol. 2017 Jun;71:60–4.
43. Gao Y, Li F, Luo R, Chen G, Li D, Wang D, et al. [Clinical features of CAPOS syndrome caused by maternal ATP1A3 gene variation: a case report]. Lin Chung Er Bi Yan Hou Tou Jing Wai Ke Za Zhi. 2024;38(1):73–6.
44. Atılgan A, Yüksel M, Ciprut A. Cochlear Implantation in a Case of Auditory Neuropathy Spectrum Disorder with CAPOS Syndrome. Medeni Med J. 2019;
45. Tranebjærg L, Strenzke N, Lindholm S, Rendtorff ND, Poulsen H, Khandelia H, et al. The CAPOS mutation in ATP1A3 alters Na/K-ATPase function and results in auditory neuropathy, which has implications for management. Hum Genet. 2018 Feb 5;137(2):111–27.
46. Varga R. Non-syndromic recessive auditory neuropathy is the result of mutations in the otoferlin (OTOF) gene. J Med Genet. 2003 Jan 1;40(1):45–50.
47. Chiu YH, Wu CC, Lu YC, Chen PJ, Lee WY, Liu AYZ, et al. Mutations in the <i>OTOF</i> Gene in Taiwanese Patients with Auditory Neuropathy. Audiology and Neurotology. 2010;15(6):364–74.
48. Romanos J, Kimura L, Fávero ML, Izarra FAR, de Mello Auricchio MTB, Batissoco AC, et al. Novel OTOF mutations in Brazilian patients with auditory neuropathy. J Hum Genet. 2009 Jul 22;54(7):382–5.
49. Zadro C, Ciorba A, Fabris A, Morgutti M, Trevisi P, Gasparini P, et al. Five new OTOF gene mutations and auditory neuropathy. Int J Pediatr Otorhinolaryngol. 2010 May;74(5):494–8.
50. Mahdieh N, Shirkavand A, Rabbani B, Tekin M, Akbari B, Akbari MT, et al. Screening of OTOF mutations in Iran: A novel mutation and review. Int J Pediatr Otorhinolaryngol. 2012 Nov;76(11):1610–5.
51. Mujtaba G, Bukhari I, Fatima A, Naz S. A p.C343S missense mutation in PJVK causes progressive hearing loss. Gene. 2012 Aug;504(1):98–101.
52. Zhang QJ, Lan L, Li N, Qi Y, Zong L, Shi W, et al. Identification of a novel mutation of PJVK in the Chinese non-syndromic hearing loss population with low prevalence of the PJVK mutations. Acta Otolaryngol. 2015 Mar 4;135(3):211–6.
53. Domínguez-Ruiz M, Rodríguez-Ballesteros M, Gandía M, Gómez-Rosas E, Villamar M, Scimemi P, et al. Novel Pathogenic Variants in PJVK, the Gene Encoding Pejvakin, in Subjects with Autosomal Recessive Non-Syndromic Hearing Impairment and Auditory Neuropathy Spectrum Disorder. Genes (Basel). 2022 Jan 15;13(1):149.
54. Nakanishi H, Kurima K, Kawashima Y, Griffith AJ. Mutations of TMC1 cause deafness by disrupting mechanoelectrical transduction. Auris Nasus Larynx. 2014 Oct;41(5):399–408.
55. Kalay E, Karaguzel A, Caylan R, Heister A, Cremers FPM, Cremers CWRJ, et al. Four novelTMC1 (DFNB7/DFNB11) mutations in Turkish patients with congenital autosomal recessive nonsyndromic hearing loss. Hum Mutat. 2005 Dec;26(6):591–591.
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2. Schvartz-Leyzac KC, Zwolan T, Pfingst B. Evaluation and Management of Patients with Auditory Neuropathy Spectrum Disorder. 2020;
3. Moser T, Starr A. Auditory neuropathy — neural and synaptic mechanisms. Nat Rev Neurol. 2016 Mar 19;12(3):135–49.
4. Rui-juan D, Shuo W, Bo L, Dongxin L, Yuan W, Jing C, et al. Audiological characteristics of patients with auditory neuropathy spectrum disorder. Chinese Archives of Otolaryngology-head and Neck Surgery. 2015;
5. Song M, Li J, Lan L, Xie L, Xiong F, Yu L, et al. Clinical characteristics of patients with unilateral auditory neuropathy. Am J Otolaryngol. 2021 Sep;42(5):103143.
6. Almishaal AA, Saleh S, Alferaih H, Alhelo O. Prevalence, risk factors, and audiological characteristics of auditory neuropathy. Int J Audiol. 2022 Dec 2;61(12):1018–26.
7. Mittal R, Ramesh AV, Panwar SS, Nilkanthan A, Nair S, Mehra PR. Auditory neuropathy spectrum disorder: Its prevalence and audiological characteristics in an Indian tertiary care hospital. Int J Pediatr Otorhinolaryngol. 2012 Sep;76(9):1351–4.
8. Penido RC, Isaac ML. Prevalence of auditory neuropathy spectrum disorder in an auditory health care service. Braz J Otorhinolaryngol. 2013 May;79(4):429–33.
9. Almishaal AA, Saleh S, Alferaih H, Alhelo O. Prevalence, risk factors, and audiological characteristics of auditory neuropathy. Int J Audiol. 2022 Dec 2;61(12):1018–26.
10. Rajput K, Saeed M, Ahmed J, Chung M, Munro C, Patel S, et al. Findings from aetiological investigation of Auditory Neuropathy Spectrum Disorder in children referred to cochlear implant programs. Int J Pediatr Otorhinolaryngol. 2019 Jan;116:79–83.
11. Manchaiah VKC, Zhao F, Danesh AA, Duprey R. The genetic basis of auditory neuropathy spectrum disorder (ANSD). Int J Pediatr Otorhinolaryngol. 2011 Feb;75(2):151–8.
12. Sathasivam S. Brown-Vialetto-Van Laere syndrome. Orphanet J Rare Dis. 2008 Dec 17;3(1):9.
13. Bamaga AK, Maamari RN, Culican SM, Shinawi M, Golumbek PT. Child Neurology: Brown-Vialetto-Van Laere syndrome. Neurology. 2018 Nov 13;91(20):938–41.
14. Woodcock IR, Menezes MP, Coleman L, Yaplito-Lee J, Peters H, White SM, et al. Genetic, Radiologic, and Clinical Variability in Brown-Vialetto-van Laere Syndrome. Semin Pediatr Neurol. 2018 Jul;26:2–9.
15. Chandran R, Alexander M, Naina P, Balraj A. Auditory neuropathy spectrum disorder with Brown–Vialetto–Van Laere syndrome: challenges in hearing rehabilitation. J Laryngol Otol. 2015 May 21;129(5):504–8.
16. Reilly MM, Murphy SM, Laurá M. Charcot‐Marie‐Tooth disease. Journal of the Peripheral Nervous System. 2011 Mar 19;16(1):1–14.
17. Mathis S, Goizet C, Tazir M, Magdelaine C, Lia AS, Magy L, et al. Charcot–Marie–Tooth diseases: an update and some new proposals for the classification. J Med Genet. 2015 Oct;52(10):681–90.
18. Estévez-Arias B, Carrera-García L, Nascimento A, Cantarero L, Hoenicka J, Palau F. Genetic approaches and pathogenic pathways in the clinical management of Charcot-Marie-Tooth disease. J Transl Genet Genom. 2022;6:333–52.
19. Giuliani N, Holte L, Shy M, Grider T. The audiologic profile of patients with Charcot-Marie Tooth neuropathy can be characterised by both cochlear and neural deficits. Int J Audiol. 2019 Dec 2;58(12):902–12.
20. Pérez H, Vílchez J, Sevilla T, Martínez L. Audiologic evaluation in Charcot-Marie-Tooth disease. Scand Audiol Suppl. 1988;30:211–3.
21. Sivera R, Cavalle L, Vílchez JJ, Espinós C, Pérez-Garrigues H, Sevilla T. Audiological Findings in Charcot–Marie–Tooth Disease Type 4C. J Int Adv Otol. 2017 May 29;13(1):93–9.
22. Pandolfo M. Friedreich Ataxia. Arch Neurol. 2008 Oct 1;65(10).
23. Delatycki MB. Friedreich ataxia: an overview. J Med Genet. 2000 Jan 1;37(1):1–8.
24. Krasilnikova MM, Humphries CL, Shinsky EM. Friedreich’s ataxia: new insights. Emerg Top Life Sci. 2023 Dec 14;7(3):313–23.
25. Rance G, Corben L, Barker E, Carew P, Chisari D, Rogers M, et al. Auditory Perception in Individuals with Friedreich’s Ataxia. Audiology and Neurotology. 2010;15(4):229–40.
26. Koohi N, Thomas-Black G, Giunti P, Bamiou DE. Auditory Phenotypic Variability in Friedreich’s Ataxia Patients. The Cerebellum. 2021 Aug 18;20(4):497–508.
27. Zong L, Guan J, Ealy M, Zhang Q, Wang D, Wang H, et al. Mutations in apoptosis-inducing factor cause X-linked recessive auditory neuropathy spectrum disorder. J Med Genet. 2015 Aug;52(8):523–31.
28. Rinaldi C, Grunseich C, Sevrioukova IF, Schindler A, Horkayne-Szakaly I, Lamperti C, et al. Cowchock Syndrome Is Associated with a Mutation in Apoptosis-Inducing Factor. The American Journal of Human Genetics. 2012 Dec;91(6):1095–102.
29. Diodato D, Tasca G, Verrigni D, D’Amico A, Rizza T, Tozzi G, et al. A novel AIFM1 mutation expands the phenotype to an infantile motor neuron disease. European Journal of Human Genetics. 2016 Mar 15;24(3):463–6.
30. Hardelin JP, Dodé C. The Complex Genetics of Kallmann Syndrome: <i>KAL1, FGFR1, FGF8, PROKR2, PROK2</i>, et al. Sexual Development. 2008;2(4–5):181–93.
31. Salama N. Kallmann syndrome and deafness: an uncommon combination: A case report and a literature review. Int J Reprod Biomed. 2016 Aug 1;14(8):541–4.
32. Marlin S, Chantot-Bastaraud S, David A, Loundon N, Jonard L, Portnoï MF, et al. Discovery of a Large Deletion of KAL1 in 2 Deaf Brothers. Otology & Neurotology. 2013 Dec;34(9):1590–4.
33. Hill J, Elliott C, Colquhoun I. Audiological, vestibular and radiological abnormalities in Kallman’s syndrome. J Laryngol Otol. 1992 Jun 29;106(6):530–4.
34. Zentner GE, Layman WS, Martin DM, Scacheri PC. Molecular and phenotypic aspects of CHD7 mutation in CHARGE syndrome. Am J Med Genet A. 2010 Mar 22;152A(3):674–86.
35. Sanlaville D, Verloes A. CHARGE syndrome: an update. European Journal of Human Genetics. 2007 Apr 14;15(4):389–99.
36. Hsu P, Ma A, Wilson M, Williams G, Curotta J, Munns CF, et al.
37. Birman CS, Brew JA, Gibson WPR, Elliott EJ. CHARGE syndrome and Cochlear implantation: Difficulties and outcomes in the paediatric population. Int J Pediatr Otorhinolaryngol. 2015 Apr;79(4):487–92.
38. Cole TRP. Sotos Syndrome. In: Management of Genetic Syndromes. Wiley; 2010. p. 769–86.
39. Baujat G, Cormier-Daire V. Sotos syndrome. Orphanet J Rare Dis. 2007 Dec 7;2(1):36.
40. Rajput K, Saeed M, Ahmed J, Chung M, Munro C, Patel S, et al. Findings from aetiological investigation of Auditory Neuropathy Spectrum Disorder in children referred to cochlear implant programs. Int J Pediatr Otorhinolaryngol. 2019 Jan;116:79–83.
41. Gaudreau P, Zizak V, Gallagher TQ. The otolaryngologic manifestations of Sotos syndrome. Int J Pediatr Otorhinolaryngol. 2013 Nov;77(11):1861–3.
42. Duat Rodriguez A, Prochazkova M, Santos Santos S, Rubio Cabezas O, Cantarin Extremera V, Gonzalez-Gutierrez-Solana L. Early Diagnosis of CAPOS Syndrome Before Acute-Onset Ataxia—Review of the Literature and a New Family. Pediatr Neurol. 2017 Jun;71:60–4.
43. Gao Y, Li F, Luo R, Chen G, Li D, Wang D, et al. [Clinical features of CAPOS syndrome caused by maternal ATP1A3 gene variation: a case report]. Lin Chung Er Bi Yan Hou Tou Jing Wai Ke Za Zhi. 2024;38(1):73–6.
44. Atılgan A, Yüksel M, Ciprut A. Cochlear Implantation in a Case of Auditory Neuropathy Spectrum Disorder with CAPOS Syndrome. Medeni Med J. 2019;
45. Tranebjærg L, Strenzke N, Lindholm S, Rendtorff ND, Poulsen H, Khandelia H, et al. The CAPOS mutation in ATP1A3 alters Na/K-ATPase function and results in auditory neuropathy, which has implications for management. Hum Genet. 2018 Feb 5;137(2):111–27.
46. Varga R. Non-syndromic recessive auditory neuropathy is the result of mutations in the otoferlin (OTOF) gene. J Med Genet. 2003 Jan 1;40(1):45–50.
47. Chiu YH, Wu CC, Lu YC, Chen PJ, Lee WY, Liu AYZ, et al. Mutations in the <i>OTOF</i> Gene in Taiwanese Patients with Auditory Neuropathy. Audiology and Neurotology. 2010;15(6):364–74.
48. Romanos J, Kimura L, Fávero ML, Izarra FAR, de Mello Auricchio MTB, Batissoco AC, et al. Novel OTOF mutations in Brazilian patients with auditory neuropathy. J Hum Genet. 2009 Jul 22;54(7):382–5.
49. Zadro C, Ciorba A, Fabris A, Morgutti M, Trevisi P, Gasparini P, et al. Five new OTOF gene mutations and auditory neuropathy. Int J Pediatr Otorhinolaryngol. 2010 May;74(5):494–8.
50. Mahdieh N, Shirkavand A, Rabbani B, Tekin M, Akbari B, Akbari MT, et al. Screening of OTOF mutations in Iran: A novel mutation and review. Int J Pediatr Otorhinolaryngol. 2012 Nov;76(11):1610–5.
51. Mujtaba G, Bukhari I, Fatima A, Naz S. A p.C343S missense mutation in PJVK causes progressive hearing loss. Gene. 2012 Aug;504(1):98–101.
52. Zhang QJ, Lan L, Li N, Qi Y, Zong L, Shi W, et al. Identification of a novel mutation of PJVK in the Chinese non-syndromic hearing loss population with low prevalence of the PJVK mutations. Acta Otolaryngol. 2015 Mar 4;135(3):211–6.
53. Domínguez-Ruiz M, Rodríguez-Ballesteros M, Gandía M, Gómez-Rosas E, Villamar M, Scimemi P, et al. Novel Pathogenic Variants in PJVK, the Gene Encoding Pejvakin, in Subjects with Autosomal Recessive Non-Syndromic Hearing Impairment and Auditory Neuropathy Spectrum Disorder. Genes (Basel). 2022 Jan 15;13(1):149.
54. Nakanishi H, Kurima K, Kawashima Y, Griffith AJ. Mutations of TMC1 cause deafness by disrupting mechanoelectrical transduction. Auris Nasus Larynx. 2014 Oct;41(5):399–408.
55. Kalay E, Karaguzel A, Caylan R, Heister A, Cremers FPM, Cremers CWRJ, et al. Four novelTMC1 (DFNB7/DFNB11) mutations in Turkish patients with congenital autosomal recessive nonsyndromic hearing loss. Hum Mutat. 2005 Dec;26(6):591–591.
56. Imtiaz A, Maqsood A, Rehman AU, Morell RJ, Holt JR, Friedman TB, et al. Recessive mutations of TMC1 associated with moderate to severe hearing loss. Neurogenetics. 2016 Apr 16;17(2):115–23.
57. Schoen CJ, Emery SB, Thorne MC, Ammana HR, Śliwerska E, Arnett J, et al. Increased activity of Diaphanous homolog 3 ( DIAPH3 )/ diaphanous causes hearing defects in humans with auditory neuropathy and in Drosophila. Proceedings of the National Academy of Sciences. 2010 Jul 27;107(30):13396–401.
58. Wu K, Wang H, Guan J, Lan L, Zhao C, Zhang M, et al. A novel variant in diaphanous homolog 1 (DIAPH1) as the cause of auditory neuropathy in a Chinese family. Int J Pediatr Otorhinolaryngol. 2020 Jun;133:109947.
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60. Affortit C, Coyat C, Saidia AR, Ceccato JC, Charif M, Sarzi E, et al. The human OPA1delTTAG mutation induces adult onset and progressive auditory neuropathy in mice. Cellular and Molecular Life Sciences. 2024 Dec 9;81(1):80.
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| Issue | Articles in Press | |
| Section | Review Article(s) | |
| Keywords | ||
| Auditory Neuropathy Genetic mutation hearing loss | ||
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How to Cite
1.
Karimi M, Ahadi M, Ajalloueyan M, saki N, Morovvati S, Mirmomeni G. The Genetic Basis of Auditory Neuropathy Spectrum Disorder. jmr. 2025;(-).
