Genetics of vestibular disorders: pathophysiological insights

Journal of Neurology

Volumn 263, Issue , 2016, Pages 45-53

  Frejo, Lidia ^a   Giegling, Ina ^b   Teggi, Roberto ^c   Lopez Escamez, Jose A ^a,d   Rujescu, Dan ^b  

^a PTS Granada   (Spain)

^b LUDWIG MAXIMILIANS UNIVERSITY   (Germany)

^c SAN RAFFAELE HOSPITAL   (Italy)

^d UNIVERSITY OF GRANADA   (Spain)

Author keywords

Meniere disease; Motion sickness; Vestibular disorders; Vestibular migraine; Whole exome sequencing

Indexed keywords

BILATERAL VESTIBULAR HYPOFUNCTION; BIOINFORMATICS; CEREBELLAR ATAXIA NEUROPATHY AND BILATERAL VESTIBULAR AREFLEXIA SYNDROME; DFNA11 GENE; DFNA15 GENE; DFNA28 GENE; DFNA9 GENE; DTNA GENE; ENLARGED VESTIBULAR AQUEDUCT SYNDROME; EXOME; FAM136A GENE; FAMILIAL DISEASE; GENE; GENE INTERACTION; GENE SEQUENCE; GENETIC VARIABILITY; GENETICS; HUMAN; MENIERE DISEASE; MOTION SICKNESS; NONHUMAN; PATHOPHYSIOLOGY; PENETRANCE; PERCEPTION DEAFNESS; PRIORITY JOURNAL; REVIEW; VESTIBULAR DISORDER; VESTIBULAR MIGRAINE; BIOLOGY; CLASSIFICATION; GENETIC ASSOCIATION STUDY; GENETIC PREDISPOSITION;

COCH PROTEIN, HUMAN; DNA BINDING PROTEIN; FAM136A PROTEIN, HUMAN; GRHL2 PROTEIN, HUMAN; HOMEODOMAIN PROTEIN; MITOCHONDRIAL PROTEIN; MYOSIN; MYOSIN VIIA; POU4F3 PROTEIN, HUMAN; SCLEROPROTEIN; TRANSCRIPTION FACTOR; TRANSCRIPTION FACTOR POU4F3;

COMPUTATIONAL BIOLOGY; DNA-BINDING PROTEINS; EXTRACELLULAR MATRIX PROTEINS; GENETIC ASSOCIATION STUDIES; GENETIC PREDISPOSITION TO DISEASE; HOMEODOMAIN PROTEINS; HUMANS; MITOCHONDRIAL PROTEINS; MYOSINS; TRANSCRIPTION FACTOR BRN-3C; TRANSCRIPTION FACTORS; VESTIBULAR DISEASES;

EID: 84963761625     PISSN: 03405354     EISSN: 14321459     Source Type: Journal    
DOI: 10.1007/s00415-015-7988-9     Document Type: Review

References (68)

1. Gazquez I, Lopez-Escamez JA (2011) Genetics of recurrent vertigo and vestibular disorders. Curr Genomics 12(6):443–450. doi:10.2174/138920211797248600
2. Requena T, Espinosa-Sanchez JM, Lopez-Escamez JA (2014) Genetics of dizziness: cerebellar and vestibular disorders. Curr Opin Neurol 27(1):98–104. doi:10.1097/wco.0000000000000053
3. Golding JF, Gresty MA (2015) Pathophysiology and treatment of motion sickness. Curr Opin Neurol 28(1):83–88. doi:10.1097/wco.0000000000000163
4. Hromatka BS, Tung JY, Kiefer AK, Do CB, Hinds DA, Eriksson N (2015) Genetic variants associated with motion sickness point to roles for inner ear development, neurological processes and glucose homeostasis. Hum Mol Genet 24(9):2700–2708. doi:10.1093/hmg/ddv028
5. Lempert T, Olesen J, Furman J, Waterston J, Seemungal B, Carey J, Bisdorff A, Versino M, Evers S, Newman-Toker D (2012) Vestibular migraine: diagnostic criteria. J Vestib Res Equilib Orientat 22(4):167–172. doi:10.3233/ves-2012-0453
6. Lopez-Escamez JA, Dlugaiczyk J, Jacobs J, Lempert T, Teggi R, von Brevern M, Bisdorff A (2014) Accompanying symptoms overlap during attacks in Meniere’s disease and vestibular migraine. Front Neurol 5:265. doi:10.3389/fneur.2014.00265
7. Cha YH, Kane MJ, Baloh RW (2008) Familial clustering of migraine, episodic vertigo, and Meniere’s disease. Otol Neurotol Off Publ Am Otol Soc Am Neurotol Soc Eur Acad Otol Neurotol 29(1):93–96. doi:10.1097/mao.0b013e31815c2abb
8. Radtke A, Lempert T, Gresty MA, Brookes GB, Bronstein AM, Neuhauser H (2002) Migraine and Meniere’s disease: is there a link? Neurology 59(11):1700–1704
9. Rudkjobing LA, Esserlind AL, Olesen J (2012) Future possibilities in migraine genetics. J Headache Pain 13(7):505–511. doi:10.1007/s10194-012-0481-2
10. Requena T, Espinosa-Sanchez JM, Cabrera S, Trinidad G, Soto-Varela A, Santos-Perez S, Teggi R, Perez P, Batuecas-Caletrio A, Fraile J, Aran I, Martin E, Benitez J, Perez-Fernandez N, Lopez-Escamez JA (2014) Familial clustering and genetic heterogeneity in Meniere’s disease. Clin Genet 85(3):245–252. doi:10.1111/cge.12150
11. Dichgans M, Freilinger T, Eckstein G, Babini E, Lorenz-Depiereux B, Biskup S, Ferrari MD, Herzog J, van den Maagdenberg AM, Pusch M, Strom TM (2005) Mutation in the neuronal voltage-gated sodium channel SCN1A in familial hemiplegic migraine. Lancet 366(9483):371–377. doi:10.1016/s0140-6736(05)66786-4
12. + pump alpha2 subunit associated with familial hemiplegic migraine type 2. Nat Genet 33(2):192–196. doi:10.1038/ng1081
13. Ducros A, Denier C, Joutel A, Cecillon M, Lescoat C, Vahedi K, Darcel F, Vicaut E, Bousser MG, Tournier-Lasserve E (2001) The clinical spectrum of familial hemiplegic migraine associated with mutations in a neuronal calcium channel. N Engl J Med 345(1):17–24. doi:10.1056/nejm200107053450103
14. Kraig RP, Nicholson C (1978) Extracellular ionic variations during spreading depression. Neuroscience 3(11):1045–1059
15. Harrington MG, Fonteh AN, Arakaki X, Cowan RP, Ecke LE, Foster H, Huhmer AF, Biringer RG (2010) Capillary endothelial Na(+), K(+), ATPase transporter homeostasis and a new theory for migraine pathophysiology. Headache 50(3):459–478. doi:10.1111/j.1526-4610.2009.01551.x
16. Nyholt DR, LaForge KS, Kallela M, Alakurtti K, Anttila V, Farkkila M, Hamalainen E, Kaprio J, Kaunisto MA, Heath AC, Montgomery GW, Gobel H, Todt U, Ferrari MD, Launer LJ, Frants RR, Terwindt GM, de Vries B, Verschuren WM, Brand J, Freilinger T, Pfaffenrath V, Straube A, Ballinger DG, Zhan Y, Daly MJ, Cox DR, Dichgans M, van den Maagdenberg AM, Kubisch C, Martin NG, Wessman M, Peltonen L, Palotie A (2008) A high-density association screen of 155 ion transport genes for involvement with common migraine. Hum Mol Genet 17(21):3318–3331. doi:10.1093/hmg/ddn227
17. von Brevern M, Ta N, Shankar A, Wiste A, Siegel A, Radtke A, Sander T, Escayg A (2006) Migrainous vertigo: mutation analysis of the candidate genes CACNA1A, ATP1A2, SCN1A, and CACNB4. Headache 46(7):1136–1141. doi:10.1111/j.1526-4610.2006.00504.x
18. Friedmann I, Fraser GR, Froggatt P (1966) Pathology of the ear in the cardioauditory syndrome of Jervell and Lange-Nielsen (recessive deafness with electrocardiographic abnormalities). J Laryngol Otol 80(5):451–470
19. Oh SK, Baek JI, Weigand KM, Venselaar H, Swarts HG, Park SH, Hashim Raza M, da Jung J, Choi SY, Lee SH, Friedrich T, Vriend G, Koenderink JB, Kim UK, Lee KY (2015) A missense variant of the ATP1A2 gene is associated with a novel phenotype of progressive sensorineural hearing loss associated with migraine. Eur J Hum Genet EJHG 23(5):639–645. doi:10.1038/ejhg.2014.154
20. Jen JC, Wang H, Lee H, Sabatti C, Trent R, Hannigan I, Brantberg K, Halmagyi GM, Nelson SF, Baloh RW (2004) Suggestive linkage to chromosome 6q in families with bilateral vestibulopathy. Neurology 63(12):2376–2379
21. Szmulewicz DJ, Waterston JA, MacDougall HG, Mossman S, Chancellor AM, McLean CA, Merchant S, Patrikios P, Halmagyi GM, Storey E (2011) Cerebellar ataxia, neuropathy, vestibular areflexia syndrome (CANVAS): a review of the clinical features and video-oculographic diagnosis. Ann N Y Acad Sci 1233:139–147. doi:10.1111/j.1749-6632.2011.06158.x
22. Szmulewicz DJ, McLean CA, Rodriguez ML, Chancellor AM, Mossman S, Lamont D, Roberts L, Storey E, Halmagyi GM (2014) Dorsal root ganglionopathy is responsible for the sensory impairment in CANVAS. Neurology 82(16):1410–1415. doi:10.1212/wnl.0000000000000352
23. Smith RJH, Shearer AE, Hildebrand MS, Van Camp G (1993) Deafness and Hereditary Hearing Loss Overview. In: Pagon RA, Adam MP, Ardinger HH et al (eds) GeneReviews(R). University of Washington, Seattle, Seattle
24. Bae SH, Robertson NG, Cho HJ, Morton CC, da Jung J, Baek JI, Choi SY, Lee J, Lee KY, Kim UK (2014) Identification of pathogenic mechanisms of COCH mutations, abolished cochlin secretion, and intracellular aggregate formation: genotype-phenotype correlations in DFNA9 deafness and vestibular disorder. Hum Mutat 35(12):1506–1513. doi:10.1002/humu.22701
25. Robertson NG, Cremers CW, Huygen PL, Ikezono T, Krastins B, Kremer H, Kuo SF, Liberman MC, Merchant SN, Miller CE, Nadol JB Jr, Sarracino DA, Verhagen WI, Morton CC (2006) Cochlin immunostaining of inner ear pathologic deposits and proteomic analysis in DFNA9 deafness and vestibular dysfunction. Hum Mol Genet 15(7):1071–1085. doi:10.1093/hmg/ddl022
26. Robertson NG, Skvorak AB, Yin Y, Weremowicz S, Johnson KR, Kovatch KA, Battey JF, Bieber FR, Morton CC (1997) Mapping and characterization of a novel cochlear gene in human and in mouse: a positional candidate gene for a deafness disorder, DFNA9. Genomics 46(3):345–354. doi:10.1006/geno.1997.5067
27. Robertson NG, Lu L, Heller S, Merchant SN, Eavey RD, McKenna M, Nadol JB Jr, Miyamoto RT, Linthicum FH Jr, Lubianca Neto JF, Hudspeth AJ, Seidman CE, Morton CC, Seidman JG (1998) Mutations in a novel cochlear gene cause DFNA9, a human nonsyndromic deafness with vestibular dysfunction. Nat Genet 20(3):299–303. doi:10.1038/3118
28. Tsukada K, Ichinose A, Miyagawa M, Mori K, Hattori M, Nishio SY, Naito Y, Kitajiri SI, Usami SI (2015) Detailed hearing and vestibular profiles in the patients with COCH mutations. Ann Otol Rhinol Laryngol. doi:10.1177/0003489415573074
29. Ernest S, Rosa FM (2014) A genomic region encompassing a newly identified exon provides enhancing activity sufficient for normal myo7aa expression in zebrafish sensory hair cells. Dev Neurobiol. doi:10.1002/dneu.22263
30. Sun Y, Chen J, Sun H, Cheng J, Li J, Lu Y, Lu Y, Jin Z, Zhu Y, Ouyang X, Yan D, Dai P, Han D, Yang W, Wang R, Liu X, Yuan H (2011) Novel missense mutations in MYO7A underlying postlingual high- or low-frequency non-syndromic hearing impairment in two large families from China. J Hum Genet 56(1):64–70. doi:10.1038/jhg.2010.147
31. Sang Q, Yan X, Wang H, Feng R, Fei X, Ma D, Xing Q, Li Q, Zhao X, Jin L, He L, Li H, Wang L (2013) Identification and functional study of a new missense mutation in the motor head domain of myosin VIIA in a family with autosomal dominant hearing impairment (DFNA11). PLoS one 8(1):e55178. doi:10.1371/journal.pone.0055178
32. Riahi Z, Bonnet C, Zainine R, Lahbib S, Bouyacoub Y, Bechraoui R, Marrakchi J, Hardelin JP, Louha M, Largueche L, Ben Yahia S, Kheirallah M, Elmatri L, Besbes G, Abdelhak S, Petit C (2015) Whole exome sequencing identifies mutations in Usher syndrome genes in profoundly deaf Tunisian patients. PLoS one 10(3):e0120584. doi:10.1371/journal.pone.0120584
33. Tamagawa Y, Ishikawa K, Ishikawa K, Ishida T, Kitamura K, Makino S, Tsuru T, Ichimura K (2002) Phenotype of DFNA11: a nonsyndromic hearing loss caused by a myosin VIIA mutation. Laryngosc 112(2):292–297. doi:10.1097/00005537-200202000-00017
34. Baek JI, Oh SK, Kim DB, Choi SY, Kim UK, Lee KY, Lee SH (2012) Targeted massive parallel sequencing: the effective detection of novel causative mutations associated with hearing loss in small families. Orphanet J Rare Dis 7:60. doi:10.1186/1750-1172-7-60
35. van Drunen FJ, Pauw RJ, Collin RW, Kremer H, Huygen PL, Cremers CW (2009) Vestibular impairment in a Dutch DFNA15 family with an L289F mutation in POU4F3. Audiol Neuro Otol 14(5):303–307. doi:10.1159/000212109
36. Peters LM, Anderson DW, Griffith AJ, Grundfast KM, San Agustin TB, Madeo AC, Friedman TB, Morell RJ (2002) Mutation of a transcription factor, TFCP2L3, causes progressive autosomal dominant hearing loss, DFNA28. Hum Mol Genet 11(23):2877–2885
37. Han Y, Mu Y, Li X, Xu P, Tong J, Liu Z, Ma T, Zeng G, Yang S, Du J, Meng A (2011) Grhl2 deficiency impairs otic development and hearing ability in a zebrafish model of the progressive dominant hearing loss DFNA28. Hum Mol Genet 20(16):3213–3226. doi:10.1093/hmg/ddr234
38. Liu F, Yang F, Wen D, Xia W, Hao L, Hu J, Zong J, Shen X, Ma J, Jiang N, Sun S, Zhang J, Wang H, Wang X, Ma Z, Ma D (2015) Grhl1 deficiency affects inner ear development in zebrafish. Int J Dev Biol. doi:10.1387/ijdb.140230FL
39. Gagnon LH, Longo-Guess CM, Berryman M, Shin JB, Saylor KW, Yu H, Gillespie PG, Johnson KR (2006) The chloride intracellular channel protein CLIC5 is expressed at high levels in hair cell stereocilia and is essential for normal inner ear function. J Neurosci Off J Soc Neurosci 26(40):10188–10198. doi:10.1523/jneurosci.2166-06.2006
40. Seco CZ, Oonk AM, Dominguez-Ruiz M, Draaisma JM, Gandia M, Oostrik J, Neveling K, Kunst HP, Hoefsloot LH, del Castillo I, Pennings RJ, Kremer H, Admiraal RJ, Schraders M (2015) Progressive hearing loss and vestibular dysfunction caused by a homozygous nonsense mutation in CLIC5. Eur J Hum Genet EJHG 23(2):189–194. doi:10.1038/ejhg.2014.83
41. Duman D, Tekin M (2012) Autosomal recessive nonsyndromic deafness genes: a review. Front Biosci (Landmark Ed) 17:2213–2236
42. Hu H, Wu L, Feng Y, Pan Q, Long Z, Li J, Dai H, Xia K, Liang D, Niikawa N, Xia J (2007) Molecular analysis of hearing loss associated with enlarged vestibular aqueduct in the mainland Chinese: a unique SLC26A4 mutation spectrum. J Hum Genet 52(6):492–497. doi:10.1007/s10038-007-0139-0
43. Madden C, Halsted M, Meinzen-Derr J, Bardo D, Boston M, Arjmand E, Nishimura C, Yang T, Benton C, Das V, Smith R, Choo D, Greinwald J (2007) The influence of mutations in the SLC26A4 gene on the temporal bone in a population with enlarged vestibular aqueduct. Arch Otolaryngol Head Neck Surg 133(2):162–168. doi:10.1001/archotol.133.2.162
44. Reyes S, Wang G, Ouyang X, Han B, Du LL, Yuan HJ, Yan D, Dai P, Liu XZ (2009) Mutation analysis of SLC26A4 in mainland Chinese patients with enlarged vestibular aqueduct. Otolaryngol Head Neck Surg Off J Am Acad Otolaryngol Head Neck Surg 141(4):502–508. doi:10.1016/j.otohns.2009.07.004
45. Jonard L, Niasme-Grare M, Bonnet C, Feldmann D, Rouillon I, Loundon N, Calais C, Catros H, David A, Dollfus H, Drouin-Garraud V, Duriez F, Eliot MM, Fellmann F, Francannet C, Gilbert-Dussardier B, Gohler C, Goizet C, Journel H, Mom T, Thuillier-Obstoy MF, Couderc R, Garabedian EN, Denoyelle F, Marlin S (2010) Screening of SLC26A4, FOXI1 and KCNJ10 genes in unilateral hearing impairment with ipsilateral enlarged vestibular aqueduct. Int J Pediatr Otorhinolaryngol 74(9):1049–1053. doi:10.1016/j.ijporl.2010.06.002
46. Gopen Q, Zhou G, Whittemore K, Kenna M (2011) Enlarged vestibular aqueduct: review of controversial aspects. Laryngosc 121(9):1971–1978. doi:10.1002/lary.22083
47. Li X, Sanneman JD, Harbidge DG, Zhou F, Ito T, Nelson R, Picard N, Chambrey R, Eladari D, Miesner T, Griffith AJ, Marcus DC, Wangemann P (2013) SLC26A4 targeted to the endolymphatic sac rescues hearing and balance in Slc26a4 mutant mice. PLoS Genet 9(7):e1003641. doi:10.1371/journal.pgen.1003641
48. Lopez-Escamez JA, Carey J, Chung WH, Goebel JA, Magnusson M, Mandala M, Newman-Toker DE, Strupp M, Suzuki M, Trabalzini F, Bisdorff A (2015) Diagnostic criteria for Meniere’s disease. J Vestib Res Equilib Orientat 25(1):1–7. doi:10.3233/ves-150549
49. Vrabec JT (2010) Genetic investigations of Meniere’s disease. Otolaryngol Clin North Am 43(5):1121–1132. doi:10.1016/j.otc.2010.05.010
50. Morrison AW, Bailey ME, Morrison GA (2009) Familial Meniere’s disease: clinical and genetic aspects. J Laryngol Otol 123(1):29–37. doi:10.1017/s0022215108002788
51. Lopez-Escamez JA, Viciana D, Garrido-Fernandez P (2009) Impact of bilaterality and headache on health-related quality of life in Meniere’s disease. Ann Otol Rhinol Laryngol 118(6):409–416
52. Tyrrell JS, Whinney DJ, Ukoumunne OC, Fleming LE, Osborne NJ (2014) Prevalence, associated factors, and comorbid conditions for Meniere’s disease. Ear Hear 35(4):e162–e169. doi:10.1097/aud.0000000000000041
53. Greco A, Gallo A, Fusconi M, Marinelli C, Macri GF, de Vincentiis M (2012) Meniere’s disease might be an autoimmune condition? Autoimmun Rev 11(10):731–738. doi:10.1016/j.autrev.2012.01.004
54. Gazquez I, Moreno A, Aran I, Soto-Varela A, Santos S, Perez-Garrigues H, Lopez-Nevot A, Requena T, Lopez-Nevot MA, Lopez-Escamez JA (2012) MICA-STR A.4 is associated with slower hearing loss progression in patients with Meniere’s disease. Otol Neurotol Off Publ Am Otol Soc Am Neurotol Soc Eur Acad Otol Neurotol 33(2):223–229. doi:10.1097/MAO.0b013e31824296c8
55. Requena T, Gazquez I, Moreno A, Batuecas A, Aran I, Soto-Varela A, Santos-Perez S, Perez N, Perez-Garrigues H, Lopez-Nevot A, Martin E, Sanz R, Perez P, Trinidad G, Alarcon-Riquelme ME, Teggi R, Zagato L, Lopez-Nevot MA, Lopez-Escamez JA (2013) Allelic variants in TLR10 gene may influence bilateral affectation and clinical course of Meniere’s disease. Immunogenetics 65(5):345–355. doi:10.1007/s00251-013-0683-z
56. Cabrera S, Sanchez E, Requena T, Martinez-Bueno M, Benitez J, Perez N, Trinidad G, Soto-Varela A, Santos-Perez S, Martin-Sanz E, Fraile J, Perez P, Alarcon-Riquelme ME, Batuecas A, Espinosa-Sanchez JM, Aran I, Lopez-Escamez JA (2014) Intronic variants in the NFKB1 gene may influence hearing forecast in patients with unilateral sensorineural hearing loss in Meniere’s disease. PLoS one 9(11):e112171. doi:10.1371/journal.pone.0112171
57. Beitz E, Kumagami H, Krippeit-Drews P, Ruppersberg JP, Schultz JE (1999) Expression pattern of aquaporin water channels in the inner ear of the rat. The molecular basis for a water regulation system in the endolymphatic sac. Hear Res 132(1–2):76–84
58. Knepper MA, Inoue T (1997) Regulation of aquaporin-2 water channel trafficking by vasopressin. Curr Opin Cell Biol 9(4):560–564
59. Takeda T, Takeda S, Kakigi A, Okada T, Nishioka R, Taguchi D, Nishimura M, Nakatani H (2010) Hormonal aspects of Meniere’s disease on the basis of clinical and experimental studies. ORL J Oto Rhino Laryngol Relat Spec 71(Suppl 1):1–9. doi:10.1159/000265113
60. Candreia C, Schmuziger N, Gurtler N (2010) Molecular analysis of aquaporin genes 1 to 4 in patients with Meniere’s disease. Cell Physiol Biochem Int J Exp Cell Physiol Biochem Pharmacol 26(4–5):787–792. doi:10.1159/000322346
61. Doi K, Sato T, Kuramasu T, Hibino H, Kitahara T, Horii A, Matsushiro N, Fuse Y, Kubo T (2005) Meniere’s disease is associated with single nucleotide polymorphisms in the human potassium channel genes, KCNE1 and KCNE3. ORL J Oto Rhino Laryngol Relat Spec 67(5):289–293. doi:10.1159/000089410
62. Campbell CA, Della Santina CC, Meyer NC, Smith NB, Myrie OA, Stone EM, Fukushima K, Califano J, Carey JP, Hansen MR, Gantz BJ, Minor LB, Smith RJ (2010) Polymorphisms in KCNE1 or KCNE3 are not associated with Meniere disease in the Caucasian population. Am J Med Genet Part A 152A(1):67–74. doi:10.1002/ajmg.a.33114
63. Teggi R, Lanzani C, Zagato L, Delli Carpini S, Manunta P, Bianchi G, Bussi M (2008) Gly460Trp alpha-adducin mutation as a possible mechanism leading to endolymphatic hydrops in Meniere’s syndrome. Otol Neurotol Off Publ Am Otol Soc Am Neurotol Soc Eur Acad Otol Neurotol 29(6):824–828. doi:10.1097/MAO.0b013e318180a4b1
64. Hietikko E, Kotimaki J, Okuloff A, Sorri M, Mannikko M (2012) A replication study on proposed candidate genes in Meniere’s disease, and a review of the current status of genetic studies. Int J Audiol 51(11):841–845. doi:10.3109/14992027.2012.705900
65. Arweiler-Harbeck D, Horsthemke B, Jahnke K, Hennies HC (2011) Genetic aspects of familial Meniere’s disease. Otol Neurotol Off Publ Am Otol Soc Am Neurotol Soc Eur Acad Otol Neurotol 32(4):695–700. doi:10.1097/MAO.0b013e318216074a
66. Klar J, Frykholm C, Friberg U, Dahl N (2006) A Meniere’s disease gene linked to chromosome 12p12.3. Am J Med Genet Part B Neuropsychiatr Genet Off Publ Int Soc Psychiatr Genet 141B(5):463–467. doi:10.1002/ajmg.b.30347
67. Requena T, Cabrera S, Martin-Sierra C, Price SD, Lysakowski A, Lopez-Escamez JA (2014) Identification of two novel mutations in FAM136A and DTNA genes in autosomal-dominant familial Meniere’s disease. Hum Mol Genet. doi:10.1093/hmg/ddu524
68. Sjo A, Magnusson KE, Peterson KH (2005) Association of alpha-dystrobrevin with reorganizing tight junctions. J Membr Biol 203(1):21–30. doi:10.1007/s00232-004-0728-1