Sensorineural hearing loss caused by MYH14 gene mutation. A case report
Abstract Introduction and objective: Hereditary causes are responsible for half of cases of sensorineural hearing loss in young people. MYH14 mutation is autosomal dominant. Description: A 33 years-old patient with moderate-to-severe sensorineural hearing loss. Genetic study revealed MYH14 mutation. Discussion: This is a case of post-lingual sensorineural deafness, compatible with autosomal dominant inheritance. MYH14 mutation seems to increase susceptibility to acoustic trauma, which may justify the late onset of hearing loss. Conclusions: MYH14 mutation is, probably, a cause for hearing loss. Genetic study has, therefore, a growing importance.
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Choi BO, Kang SH, Hyun YS, Kanwal S, Park SW, Koo H, et al. A complex phenotype of peripheral neuropathy, myopathy, hoarseness, and hearing loss is linked to an autosomal dominant mutation in MYH14. Hum Mutat. 2011; 32:669-77.
https://doi.org/10.1002/humu.21488 PMid:21480433 PMCid:PMC3103632
De Leenheer EMR, Janssens S, Padalko E, Loose D, Leroy BP, Dhooge IJ.. Etiological diagnosis in the hearing impaired newbord: Proposal of a flow chart. Int J Pediatr Otorhinolaryngol. 2011; 75:27-32. https://doi.org/10.1016/j.ijporl.2010.05.040 PMid:21047691
Donaudy F, Snoeckx R, Pfister M, Zenner HP, Blin N, Di Stazio M, et al. Nonmuscle myosin heavy-chain gene MYH14 is expressed in cochlea and mutated in patients affected by autosomal dominant hearing impairment (DFNA4). Am J Hum Genet. 2004; 74:770-6. https://doi.org/10.1086/383285 PMid:15015131 PMCid:PMC1181955
Fu X, Zhang L, Jin Y, Sun X, Zhang A, Wen Z, et al. Loss of Myh14 Increases Susceptibility to Noise-Induced Hearing Loss in CBA/CaJ Mice. Neural Plast. 2016; 2016:6720420. https://doi.org/10.1155/2016/6720420 PMid:28101381 PMCid:PMC5215640
Mafong DD, Shin EJ, Lalwani AK. Use of laboratory evaluation and radiologic imaging in the diagnostic evaluation of children with sensorineural hearing loss. Laryngoscope. 2002; 112:1-7. https://doi.org/10.1097/00005537-200201000-00001 PMid:11802030
Qing J, Yan D, Zhou Y, Liu Q, Wu W, Xiao Z, et al. Whole-exome sequencing to decipher the genetic heterogeneity of hearing loss in a Chinese family with deaf by deaf mating. PLoS One. 2014; 9:e109178. https://doi.org/10.1371/journal.pone.0109178 PMid:25289672 PMCid:PMC4188603
Zong L, Lu C, Zhao Y, Li Q, Han D, Yang W, et al. Clue to a new deafness gene: a large Chinese nonsyndromic hearing loss family linked to DFNA4. J Genet Genomics. 2012; 39: 653-7. https://doi.org/10.1016/j.jgg.2012.11.002 PMid:23273769 PMCid:PMC3685490
https://doi.org/10.1002/humu.21488 PMid:21480433 PMCid:PMC3103632
De Leenheer EMR, Janssens S, Padalko E, Loose D, Leroy BP, Dhooge IJ.. Etiological diagnosis in the hearing impaired newbord: Proposal of a flow chart. Int J Pediatr Otorhinolaryngol. 2011; 75:27-32. https://doi.org/10.1016/j.ijporl.2010.05.040 PMid:21047691
Donaudy F, Snoeckx R, Pfister M, Zenner HP, Blin N, Di Stazio M, et al. Nonmuscle myosin heavy-chain gene MYH14 is expressed in cochlea and mutated in patients affected by autosomal dominant hearing impairment (DFNA4). Am J Hum Genet. 2004; 74:770-6. https://doi.org/10.1086/383285 PMid:15015131 PMCid:PMC1181955
Fu X, Zhang L, Jin Y, Sun X, Zhang A, Wen Z, et al. Loss of Myh14 Increases Susceptibility to Noise-Induced Hearing Loss in CBA/CaJ Mice. Neural Plast. 2016; 2016:6720420. https://doi.org/10.1155/2016/6720420 PMid:28101381 PMCid:PMC5215640
Mafong DD, Shin EJ, Lalwani AK. Use of laboratory evaluation and radiologic imaging in the diagnostic evaluation of children with sensorineural hearing loss. Laryngoscope. 2002; 112:1-7. https://doi.org/10.1097/00005537-200201000-00001 PMid:11802030
Qing J, Yan D, Zhou Y, Liu Q, Wu W, Xiao Z, et al. Whole-exome sequencing to decipher the genetic heterogeneity of hearing loss in a Chinese family with deaf by deaf mating. PLoS One. 2014; 9:e109178. https://doi.org/10.1371/journal.pone.0109178 PMid:25289672 PMCid:PMC4188603
Zong L, Lu C, Zhao Y, Li Q, Han D, Yang W, et al. Clue to a new deafness gene: a large Chinese nonsyndromic hearing loss family linked to DFNA4. J Genet Genomics. 2012; 39: 653-7. https://doi.org/10.1016/j.jgg.2012.11.002 PMid:23273769 PMCid:PMC3685490
Carneiro-Sousa, P., GambÔa, I., Duarte, D., & Trigueiros-Cunha, N. (2018). Sensorineural hearing loss caused by MYH14 gene mutation. A case report. Revista ORL, 9(1), 81–83. https://doi.org/10.14201/orl.16651
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