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Mitochondrially Inherited Nonsyndromic Sensorineural Deafness

MedGen UID:
1651816
•Concept ID:
C4724974
•
Disease or Syndrome

Definition

A maternally inherited form of nonsyndromic sensorineural deafness that is caused by a mutation in any of several mitochondrial genes. [from NCI]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVMitochondrially Inherited Nonsyndromic Sensorineural Deafness

Professional guidelines

PubMed

Whole mitochondrial genome screening in two families with hearing loss: detection of a novel mutation in the 12S rRNA gene.
Mkaouar-Rebai E, Fendri-Kriaa N, Louhichi N, Tlili A, Triki C, Ghorbel A, Masmoudi S, Fakhfakh F
Biosci Rep 2010 Dec;30(6):405-11. doi: 10.1042/BSR20090120. PMID: 20055758
Coenzyme Q-10 treatment of patients with a 7445A--->G mitochondrial DNA mutation stops the progression of hearing loss.
Angeli SI, Liu XZ, Yan D, Balkany T, Telischi F
Acta Otolaryngol 2005 May;125(5):510-2. doi: 10.1080/00016480510026232. PMID: 16092542

Recent clinical studies

Etiology

C1494T mitochondrial DNA mutation, hearing loss, and aminoglycosides antibiotics.
Postal M, Palodeto B, Sartorato EL, Oliveira CA
Braz J Otorhinolaryngol 2009 Nov-Dec;75(6):884-7. doi: 10.1016/s1808-8694(15)30554-1. PMID: 20209292Free PMC Article
Hereditary non-syndromic sensorineural hearing loss: transforming silence to sound.
Schrijver I
J Mol Diagn 2004 Nov;6(4):275-84. doi: 10.1016/S1525-1578(10)60522-3. PMID: 15507665Free PMC Article
A review of cochlear implantation in mitochondrial sensorineural hearing loss.
Sinnathuray AR, Raut V, Awa A, Magee A, Toner JG
Otol Neurotol 2003 May;24(3):418-26. doi: 10.1097/00129492-200305000-00012. PMID: 12806294
Sensorineural hearing loss caused by mitochondrial DNA mutations: special reference to the A1555G mutation.
Usami S, Abe S, Shinkawa H, Kimberling WJ
J Commun Disord 1998 Sep-Oct;31(5):423-34; quiz 434-5. doi: 10.1016/s0021-9924(98)00014-8. PMID: 9777488
Mitochondrial mutation associated with nonsyndromic deafness.
Fischel-Ghodsian N, Prezant TR, Fournier P, Stewart IA, Maw M
Am J Otolaryngol 1995 Nov-Dec;16(6):403-8. doi: 10.1016/0196-0709(95)90078-0. PMID: 8572257

Diagnosis

The genetic basis of auditory neuropathy spectrum disorder (ANSD).
Manchaiah VK, Zhao F, Danesh AA, Duprey R
Int J Pediatr Otorhinolaryngol 2011 Feb;75(2):151-8. Epub 2010 Dec 21 doi: 10.1016/j.ijporl.2010.11.023. PMID: 21176974
Diagnosis routine and approach in genetic sensorineural hearing loss.
Abreu Alves FR, Quintanilha Ribeiro Fde A
Braz J Otorhinolaryngol 2007 May-Jun;73(3):412-7. doi: 10.1016/s1808-8694(15)30087-2. PMID: 17684664Free PMC Article
Nuclear and mitochondrial genes mutated in nonsyndromic impaired hearing.
Finsterer J, Fellinger J
Int J Pediatr Otorhinolaryngol 2005 May;69(5):621-47. doi: 10.1016/j.ijporl.2004.12.002. PMID: 15850684
Mitochondrial deafness.
Fischel-Ghodsian N
Ear Hear 2003 Aug;24(4):303-13. doi: 10.1097/01.AUD.0000079802.82344.B5. PMID: 12923421
Genetic causes of nonsyndromic hearing loss.
Skvorak Giersch AB, Morton CC
Curr Opin Pediatr 1999 Dec;11(6):551-7. doi: 10.1097/00008480-199912000-00014. PMID: 10590915

Therapy

C1494T mitochondrial DNA mutation, hearing loss, and aminoglycosides antibiotics.
Postal M, Palodeto B, Sartorato EL, Oliveira CA
Braz J Otorhinolaryngol 2009 Nov-Dec;75(6):884-7. doi: 10.1016/s1808-8694(15)30554-1. PMID: 20209292Free PMC Article
Molecular and clinical characterisation of three Spanish families with maternally inherited non-syndromic hearing loss caused by the 1494C->T mutation in the mitochondrial 12S rRNA gene.
Rodríguez-Ballesteros M, Olarte M, Aguirre LA, Galán F, Galán R, Vallejo LA, Navas C, Villamar M, Moreno-Pelayo MA, Moreno F, del Castillo I
J Med Genet 2006 Nov;43(11):e54. doi: 10.1136/jmg.2006.042440. PMID: 17085680Free PMC Article
Coenzyme Q-10 treatment of patients with a 7445A--->G mitochondrial DNA mutation stops the progression of hearing loss.
Angeli SI, Liu XZ, Yan D, Balkany T, Telischi F
Acta Otolaryngol 2005 May;125(5):510-2. doi: 10.1080/00016480510026232. PMID: 16092542
Mitochondrial DNA mutation at nucleotide 1555 in a patient with bilateral sensorineural hearing loss of unknown etiology.
Tamagawa Y, Kitamura K, Ishida T, Hagiwara H, Abe K, Nishizawa M
Acta Otolaryngol 1996 Nov;116(6):796-8. doi: 10.3109/00016489609137928. PMID: 8973709

Prognosis

Novel mutation located in EC7 domain of protocadherin-15 uncovered by targeted massively parallel sequencing in a family segregating non-syndromic deafness DFNB23.
Zhan Y, Liu M, Chen D, Chen K, Jiang H
Int J Pediatr Otorhinolaryngol 2015 Jul;79(7):983-6. Epub 2015 Apr 11 doi: 10.1016/j.ijporl.2015.04.002. PMID: 25930172
The clinical and audiologic features of hearing loss due to mitochondrial mutations.
Yelverton JC, Arnos K, Xia XJ, Nance WE, Pandya A, Dodson KM
Otolaryngol Head Neck Surg 2013 Jun;148(6):1017-22. Epub 2013 Mar 22 doi: 10.1177/0194599813482705. PMID: 23525847
Novel mutations affecting the secondary structure of MT-RNR1 gene: a causal relationship with profound nonsyndromic hearing impairment.
Padma G, Ramchander PV, Nandur VU, Kumar KR, Padma T
Genet Test Mol Biomarkers 2012 Sep;16(9):1092-7. Epub 2012 Aug 1 doi: 10.1089/gtmb.2012.0036. PMID: 22852811

Clinical prediction guides

Prevalence of Mutations in Deafness-Causing Genes in Cochlear Implanted Patients with Profound Nonsyndromic Sensorineural Hearing Loss in Shandong Province, China.
Luo J, Bai X, Zhang F, Xiao Y, Gu L, Han Y, Fan Z, Li J, Xu L, Wang H
Ann Hum Genet 2017 Nov;81(6):258-266. Epub 2017 Aug 8 doi: 10.1111/ahg.12207. PMID: 28786104
Novel mutation located in EC7 domain of protocadherin-15 uncovered by targeted massively parallel sequencing in a family segregating non-syndromic deafness DFNB23.
Zhan Y, Liu M, Chen D, Chen K, Jiang H
Int J Pediatr Otorhinolaryngol 2015 Jul;79(7):983-6. Epub 2015 Apr 11 doi: 10.1016/j.ijporl.2015.04.002. PMID: 25930172
Novel mutations affecting the secondary structure of MT-RNR1 gene: a causal relationship with profound nonsyndromic hearing impairment.
Padma G, Ramchander PV, Nandur VU, Kumar KR, Padma T
Genet Test Mol Biomarkers 2012 Sep;16(9):1092-7. Epub 2012 Aug 1 doi: 10.1089/gtmb.2012.0036. PMID: 22852811
Maternally inherited hearing loss is associated with the novel mitochondrial tRNA Ser(UCN) 7505T>C mutation in a Han Chinese family.
Tang X, Li R, Zheng J, Cai Q, Zhang T, Gong S, Zheng W, He X, Zhu Y, Xue L, Yang A, Yang L, Lu J, Guan MX
Mol Genet Metab 2010 May;100(1):57-64. Epub 2010 Jan 25 doi: 10.1016/j.ymgme.2010.01.008. PMID: 20153673
Dominant optic atrophy, sensorineural hearing loss, ptosis, and ophthalmoplegia: a syndrome caused by a missense mutation in OPA1.
Payne M, Yang Z, Katz BJ, Warner JE, Weight CJ, Zhao Y, Pearson ED, Treft RL, Hillman T, Kennedy RJ, Meire FM, Zhang K
Am J Ophthalmol 2004 Nov;138(5):749-55. doi: 10.1016/j.ajo.2004.06.011. PMID: 15531309

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