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Mitochondrial non-syndromic sensorineural hearing loss

MedGen UID:
463247
Concept ID:
C3151897
Disease or Syndrome
Synonyms: Deafness, nonsyndromic sensorineural, mitochondrial; MT-CO1-Related Hearing Loss and Deafness; MT-RNR1-Related Hearing Loss and Deafness; MT-TS1-Related Hearing Loss and Deafness; Nonsyndromic Hearing Loss and Deafness, Mitochondrial
Modes of inheritance:
Mitochondrial inheritance
MedGen UID:
165802
Concept ID:
C0887941
Genetic Function
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on the mitochondrial genome. Because the mitochondrial genome is essentially always maternally inherited, a mitochondrial condition can only be transmitted by females, although the condition can affect both sexes. The proportion of mutant mitochondria can vary (heteroplasmy).
 
Genes (locations): MT-CO1; MT-RNR1; MT-TS1
 
Monarch Initiative: MONDO:0010779
OMIM®: 500008
Orphanet: ORPHA90641

Definition

Mitochondrial nonsyndromic hearing loss and deafness is characterized by sensorineural hearing loss (SNHL) of variable onset and severity. Pathogenic variants in MT-RNR1 can be associated with predisposition to aminoglycoside ototoxicity and/or late-onset SNHL. Hearing loss associated with aminoglycoside ototoxicity is bilateral and severe to profound, occurring within a few days to weeks after administration of any amount (even a single dose) of an aminoglycoside antibiotic such as gentamycin, tobramycin, amikacin, kanamycin, or streptomycin. Pathogenic variants in MT-TS1 are usually associated with childhood onset of SNHL that is generally nonsyndromic – although the MT-TS1 substitution m.7445A>G has been found in some families who also have palmoplantar keratoderma (scaling, hyperkeratosis, and honeycomb appearance of the skin of the palms, soles, and heels). [from GeneReviews]

Additional description

From OMIM
Mutations in mitochondrial DNA (mtDNA) have been found to be associated with nonsyndromic sensorineural hearing loss. Matrilineal relatives within and among families carrying certain pathogenic mitochondrial mutations exhibit a wide range of penetrance, severity, and age of onset of hearing loss, indicating that the mitochondrial mutations by themselves are not sufficient to produce a deafness phenotype. Modifier factors, such as nuclear and mitochondrial genes, or environmental factors, such as exposure to aminoglycosides, appear to modulate the phenotypic manifestations (summary by Tang et al., 2007).  http://www.omim.org/entry/500008

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  

Professional guidelines

PubMed

Mkaouar-Rebai E, Fendri-Kriaa N, Louhichi N, Tlili A, Triki C, Ghorbel A, Masmoudi S, Fakhfakh F
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Recent clinical studies

Etiology

Elander J, Ullmark T, Ehrencrona H, Jonson T, Piccinelli P, Samuelsson S, Löwgren K, Falkenius-Schmidt K, Ehinger J, Stenfeldt K, Värendh M
Int J Pediatr Otorhinolaryngol 2022 Aug;159:111218. Epub 2022 Jun 24 doi: 10.1016/j.ijporl.2022.111218. PMID: 35779349
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Diagnosis

Martins K, Fontenele M, Câmara S, Sartorato EL
Codas 2013;25(3):224-8. doi: 10.1590/s2317-17822013000300006. PMID: 24408332
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Abreu Alves FR, Quintanilha Ribeiro Fde A
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Schrijver I
J Mol Diagn 2004 Nov;6(4):275-84. doi: 10.1016/S1525-1578(10)60522-3. PMID: 15507665Free PMC Article
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Ear Hear 2003 Aug;24(4):303-13. doi: 10.1097/01.AUD.0000079802.82344.B5. PMID: 12923421

Therapy

Rydzanicz M, Cywińska K, Wróbel M, Pollak A, Gawęcki W, Wojsyk-Banaszak I, Lechowicz U, Mueller-Malesińska M, Ołdak M, Płoski R, Skarżyński H, Szyfter K, Szyfter W
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Zhu Y, Li Q, Chen Z, Kun Y, Liu L, Liu X, Yuan H, Zhai S, Han D, Dai P
Mitochondrion 2009 Nov;9(6):418-28. Epub 2009 Aug 12 doi: 10.1016/j.mito.2009.07.006. PMID: 19682603
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Prognosis

Eaton A, Bernier FP, Goedhart C, Caluseriu O, Lamont RE, Boycott KM, Parboosingh JS, Innes AM; Care4Rare Canada Consortium
Am J Med Genet A 2018 Nov;176(11):2487-2493. Epub 2018 Sep 23 doi: 10.1002/ajmg.a.40516. PMID: 30244537
Yamamoto N, Mutai H, Namba K, Morita N, Masuda S, Nishi Y, Nakano A, Masuda S, Fujioka M, Kaga K, Ogawa K, Matsunaga T
Orphanet J Rare Dis 2017 Sep 25;12(1):157. doi: 10.1186/s13023-017-0708-z. PMID: 28946916Free PMC Article
Zhu Q, Zhou Y, Jin X, Lin X
Mitochondrial DNA 2015 Feb;26(1):2-6. Epub 2013 Sep 11 doi: 10.3109/19401736.2013.823192. PMID: 24021014
Bhalla S, Sharma R, Khandelwal G, Panda NK, Khullar M
Biochem Biophys Res Commun 2009 Jul 31;385(3):445-8. Epub 2009 May 22 doi: 10.1016/j.bbrc.2009.05.083. PMID: 19465004
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Clinical prediction guides

Moassass F, Al-Halabi B, Nweder MS, Al-Achkar W
Int J Pediatr Otorhinolaryngol 2018 Oct;113:110-114. Epub 2018 Jul 24 doi: 10.1016/j.ijporl.2018.07.028. PMID: 30173967
Yamamoto N, Mutai H, Namba K, Morita N, Masuda S, Nishi Y, Nakano A, Masuda S, Fujioka M, Kaga K, Ogawa K, Matsunaga T
Orphanet J Rare Dis 2017 Sep 25;12(1):157. doi: 10.1186/s13023-017-0708-z. PMID: 28946916Free PMC Article
Martins K, Fontenele M, Câmara S, Sartorato EL
Codas 2013;25(3):224-8. doi: 10.1590/s2317-17822013000300006. PMID: 24408332
Rydzanicz M, Cywińska K, Wróbel M, Pollak A, Gawęcki W, Wojsyk-Banaszak I, Lechowicz U, Mueller-Malesińska M, Ołdak M, Płoski R, Skarżyński H, Szyfter K, Szyfter W
Mol Genet Metab 2011 Sep-Oct;104(1-2):153-9. Epub 2011 May 13 doi: 10.1016/j.ymgme.2011.05.004. PMID: 21621438
Zhao H, Young WY, Yan Q, Li R, Cao J, Wang Q, Li X, Peters JL, Han D, Guan MX
Nucleic Acids Res 2005;33(3):1132-9. Epub 2005 Feb 18 doi: 10.1093/nar/gki262. PMID: 15722487Free PMC Article

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