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Autosomal dominant nonsyndromic hearing loss 11(DFNA11)

MedGen UID:
331297
•Concept ID:
C1832475
•
Disease or Syndrome
Synonyms: Deafness, autosomal dominant 11; DFNA11 Nonsyndromic Hearing Loss and Deafness
 
Gene (location): MYO7A (11q13.5)
 
Monarch Initiative: MONDO:0011032
OMIM®: 601317

Definition

Autosomal dominant deafness-11 is a nonsyndromic form of progressive neurosensory hearing loss with postlingual onset. Some affected individuals have mild vestibular symptoms (summary by Sun et al., 2011). [from OMIM]

Clinical features

From HPO
Vertigo
MedGen UID:
53006
•Concept ID:
C0042571
•
Sign or Symptom
An abnormal sensation of spinning while the body is actually stationary.
See: Feature record | Search on this feature
Bilateral sensorineural hearing impairment
MedGen UID:
96788
•Concept ID:
C0452138
•
Disease or Syndrome
A bilateral form of sensorineural hearing impairment.
See: Feature record | Search on this feature
Abnormal vestibular function
MedGen UID:
334848
•Concept ID:
C1843865
•
Finding
An abnormality of the functioning of the vestibular apparatus.
See: Feature record | Search on this feature

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  

Professional guidelines

PubMed

A novel KCNQ4 one-base deletion in a large pedigree with hearing loss: implication for the genotype-phenotype correlation.
Kamada F, Kure S, Kudo T, Suzuki Y, Oshima T, Ichinohe A, Kojima K, Niihori T, Kanno J, Narumi Y, Narisawa A, Kato K, Aoki Y, Ikeda K, Kobayashi T, Matsubara Y
J Hum Genet 2006;51(5):455-460. Epub 2006 Apr 5 doi: 10.1007/s10038-006-0384-7. PMID: 16596322

Recent clinical studies

Etiology

A KCNQ4 c.546C>G Genetic Variant Associated with Late Onset Non-Syndromic Hearing Loss in a Taiwanese Population.
Yen TT, Chen IC, Hua MW, Wei CY, Shih KH, Li JL, Lin CH, Hsiao TH, Chen YM, Jiang RS
Genes (Basel) 2021 Oct 27;12(11) doi: 10.3390/genes12111711. PMID: 34828318Free PMC Article
Prevalence and Clinical Characteristics of Hearing Loss Caused by MYH14 Variants.
Hiramatsu K, Nishio SY, Kitajiri SI, Kitano T, Moteki H, Usami SI, On Behalf Of The Deafness Gene Study Consortium
Genes (Basel) 2021 Oct 15;12(10) doi: 10.3390/genes12101623. PMID: 34681017Free PMC Article
Hair phenotype in non-syndromic deafness.
Volo T, Sathiyaseelan T, Astolfi L, Guaran V, Trevisi P, Emanuelli E, Martini A
Int J Pediatr Otorhinolaryngol 2013 Aug;77(8):1280-5. Epub 2013 Jun 14 doi: 10.1016/j.ijporl.2013.05.010. PMID: 23751281

Diagnosis

Cingulin regulates hair cell cuticular plate morphology and is required for hearing in human and mouse.
Zhu GJ, Huang Y, Zhang L, Yan K, Qiu C, He Y, Liu Q, Zhu C, Morín M, Moreno-Pelayo MÁ, Zhu MS, Cao X, Zhou H, Qian X, Xu Z, Chen J, Gao X, Wan G
EMBO Mol Med 2023 Nov 8;15(11):e17611. Epub 2023 Sep 11 doi: 10.15252/emmm.202317611. PMID: 37691516Free PMC Article
Prevalence and Clinical Characteristics of Hearing Loss Caused by MYH14 Variants.
Hiramatsu K, Nishio SY, Kitajiri SI, Kitano T, Moteki H, Usami SI, On Behalf Of The Deafness Gene Study Consortium
Genes (Basel) 2021 Oct 15;12(10) doi: 10.3390/genes12101623. PMID: 34681017Free PMC Article
Identification of TMC1 as a relatively common cause for nonsyndromic hearing loss in the Saudi population.
Ramzan K, Al-Owain M, Al-Numair NS, Afzal S, Al-Ageel S, Al-Amer S, Al-Baik L, Al-Otaibi GF, Hashem A, Al-Mashharawi E, Basit S, Al-Mazroea AH, Softah A, Sogaty S, Imtiaz F
Am J Med Genet B Neuropsychiatr Genet 2020 Apr;183(3):172-180. Epub 2019 Dec 19 doi: 10.1002/ajmg.b.32774. PMID: 31854501
Forty-six genes causing nonsyndromic hearing impairment: which ones should be analyzed in DNA diagnostics?
Hilgert N, Smith RJH, Van Camp G
Mutat Res 2009 Mar-Jun;681(2-3):189-196. Epub 2008 Aug 29 doi: 10.1016/j.mrrev.2008.08.002. PMID: 18804553Free PMC Article
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

Improving the Management of Patients with Hearing Loss by the Implementation of an NGS Panel in Clinical Practice.
García-García G, Berzal-Serrano A, García-Díaz P, Villanova-Aparisi R, Juárez-Rodríguez S, de Paula-Vernetta C, Cavallé-Garrido L, Jaijo T, Armengot-Carceller M, Millán JM, Aller E
Genes (Basel) 2020 Dec 7;11(12) doi: 10.3390/genes11121467. PMID: 33297549Free PMC Article
SNP linkage analysis and whole exome sequencing identify a novel POU4F3 mutation in autosomal dominant late-onset nonsyndromic hearing loss (DFNA15).
Kim HJ, Won HH, Park KJ, Hong SH, Ki CS, Cho SS, Venselaar H, Vriend G, Kim JW
PLoS One 2013;8(11):e79063. Epub 2013 Nov 18 doi: 10.1371/journal.pone.0079063. PMID: 24260153Free PMC Article
Genetics of aminoglycoside-induced and prelingual non-syndromic mitochondrial hearing impairment: a review.
Bindu LH, Reddy PP
Int J Audiol 2008 Nov;47(11):702-7. doi: 10.1080/14992020802215862. PMID: 19031229

Prognosis

Reclassification of a TMC1 synonymous substitution as a variant disrupting splicing regulatory elements associated with recessive hearing loss.
Vaché C, Baux D, Bianchi J, Baudoin C, Faugère V, Francannet C, Koenig M, Kalatzis V, Roux AF
Eur J Hum Genet 2022 Jan;30(1):34-41. Epub 2021 Dec 3 doi: 10.1038/s41431-021-01010-9. PMID: 34857896Free PMC Article
A novel KCNQ4 gene variant (c.857A>G; p.Tyr286Cys) in an extended family with non‑syndromic deafness 2A.
Li Q, Liang P, Wang S, Li W, Wang J, Yang Y, An X, Chen J, Zha D
Mol Med Rep 2021 Jun;23(6) Epub 2021 Apr 13 doi: 10.3892/mmr.2021.12059. PMID: 33846771Free PMC Article
Identification of TMC1 as a relatively common cause for nonsyndromic hearing loss in the Saudi population.
Ramzan K, Al-Owain M, Al-Numair NS, Afzal S, Al-Ageel S, Al-Amer S, Al-Baik L, Al-Otaibi GF, Hashem A, Al-Mashharawi E, Basit S, Al-Mazroea AH, Softah A, Sogaty S, Imtiaz F
Am J Med Genet B Neuropsychiatr Genet 2020 Apr;183(3):172-180. Epub 2019 Dec 19 doi: 10.1002/ajmg.b.32774. PMID: 31854501
A contemporary review of AudioGene audioprofiling: a machine-based candidate gene prediction tool for autosomal dominant nonsyndromic hearing loss.
Hildebrand MS, DeLuca AP, Taylor KR, Hoskinson DP, Hur IA, Tack D, McMordie SJ, Huygen PL, Casavant TL, Smith RJ
Laryngoscope 2009 Nov;119(11):2211-5. doi: 10.1002/lary.20664. PMID: 19780026Free PMC Article
A gene for autosomal dominant nonsyndromic hearing loss (DFNA12) maps to chromosome 11q22-24.
Verhoeven K, Van Camp G, Govaerts PJ, Balemans W, Schatteman I, Verstreken M, Van Laer L, Smith RJ, Brown MR, Van de Heyning PH, Somers T, Offeciers FE, Willems PJ
Am J Hum Genet 1997 May;60(5):1168-73. PMID: 9150164Free PMC Article

Clinical prediction guides

A novel KCNQ4 gene variant (c.857A>G; p.Tyr286Cys) in an extended family with non‑syndromic deafness 2A.
Li Q, Liang P, Wang S, Li W, Wang J, Yang Y, An X, Chen J, Zha D
Mol Med Rep 2021 Jun;23(6) Epub 2021 Apr 13 doi: 10.3892/mmr.2021.12059. PMID: 33846771Free PMC Article
Identification of TMC1 as a relatively common cause for nonsyndromic hearing loss in the Saudi population.
Ramzan K, Al-Owain M, Al-Numair NS, Afzal S, Al-Ageel S, Al-Amer S, Al-Baik L, Al-Otaibi GF, Hashem A, Al-Mashharawi E, Basit S, Al-Mazroea AH, Softah A, Sogaty S, Imtiaz F
Am J Med Genet B Neuropsychiatr Genet 2020 Apr;183(3):172-180. Epub 2019 Dec 19 doi: 10.1002/ajmg.b.32774. PMID: 31854501
A contemporary review of AudioGene audioprofiling: a machine-based candidate gene prediction tool for autosomal dominant nonsyndromic hearing loss.
Hildebrand MS, DeLuca AP, Taylor KR, Hoskinson DP, Hur IA, Tack D, McMordie SJ, Huygen PL, Casavant TL, Smith RJ
Laryngoscope 2009 Nov;119(11):2211-5. doi: 10.1002/lary.20664. PMID: 19780026Free PMC Article
Evidence for digenic inheritance of nonsyndromic hereditary hearing loss in a Swedish family.
Balciuniene J, Dahl N, Borg E, Samuelsson E, Koisti MJ, Pettersson U, Jazin EE
Am J Hum Genet 1998 Sep;63(3):786-93. doi: 10.1086/302012. PMID: 9718342Free PMC Article
A gene for autosomal dominant nonsyndromic hearing loss (DFNA12) maps to chromosome 11q22-24.
Verhoeven K, Van Camp G, Govaerts PJ, Balemans W, Schatteman I, Verstreken M, Van Laer L, Smith RJ, Brown MR, Van de Heyning PH, Somers T, Offeciers FE, Willems PJ
Am J Hum Genet 1997 May;60(5):1168-73. PMID: 9150164Free PMC Article

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