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Autosomal dominant nonsyndromic hearing loss 17(DFNA17)

MedGen UID:
350942
•Concept ID:
C1863659
•
Disease or Syndrome
Synonyms: Autosomal dominant nonsyndromic deafness 17; Deafness, autosomal dominant 17; Deafness, autosomal dominant nonsyndromic sensorineural 17; DFNA17 Nonsyndromic Hearing Loss and Deafness; Late-onset progressive hereditary hearing impairment due to cochleosaccular degeneration; Nonsyndromic hereditary deafness DFNA17
 
Gene (location): MYH9 (22q12.3)
 
Monarch Initiative: MONDO:0011350
OMIM®: 603622

Definition

Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the MYH9 gene. [from MONDO]

Clinical features

From HPO
High-frequency hearing impairment
MedGen UID:
42358
•Concept ID:
C0018780
•
Disease or Syndrome
A type of hearing impairment affecting primarily the higher frequencies of sound (3,000 to 6,000 Hz).
See: Feature record | Search on this feature

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  

Recent clinical studies

Etiology

Identification of homozygous missense variant in SIX5 gene underlying recessive nonsyndromic hearing impairment.
Kakar MU, Akram M, Zubair Mehboob M, Younus M, Bilal M, Waqas A, Nazir A, Shafi M, Umair M, Ahmad S, Rafeeq MM
PLoS One 2022;17(6):e0268078. Epub 2022 Jun 16 doi: 10.1371/journal.pone.0268078. PMID: 35709191Free PMC Article
Diagnostic Yield of Targeted Hearing Loss Gene Panel Sequencing in a Large German Cohort With a Balanced Age Distribution from a Single Diagnostic Center: An Eight-year Study.
Tropitzsch A, Schade-Mann T, Gamerdinger P, Dofek S, Schulte B, Schulze M, Battke F, Fehr S, Biskup S, Heyd A, Müller M, Löwenheim H, Vona B, Holderried M
Ear Hear 2022 May/Jun;43(3):1049-1066. doi: 10.1097/AUD.0000000000001159. PMID: 34753855Free PMC Article
GJB2 (Cx26) gene mutations in Chinese patients with congenital sensorineural deafness and a report of one novel mutation.
Xiao ZA, Xie DH
Chin Med J (Engl) 2004 Dec;117(12):1797-801. PMID: 15603707

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
Diagnostic Yield of Targeted Hearing Loss Gene Panel Sequencing in a Large German Cohort With a Balanced Age Distribution from a Single Diagnostic Center: An Eight-year Study.
Tropitzsch A, Schade-Mann T, Gamerdinger P, Dofek S, Schulte B, Schulze M, Battke F, Fehr S, Biskup S, Heyd A, Müller M, Löwenheim H, Vona B, Holderried M
Ear Hear 2022 May/Jun;43(3):1049-1066. doi: 10.1097/AUD.0000000000001159. PMID: 34753855Free PMC Article
Benefits of Exome Sequencing in Children with Suspected Isolated Hearing Loss.
Van Heurck R, Carminho-Rodrigues MT, Ranza E, Stafuzza C, Quteineh L, Gehrig C, Hammar E, Guipponi M, Abramowicz M, Senn P, Guinand N, Cao-Van H, Paoloni-Giacobino A
Genes (Basel) 2021 Aug 20;12(8) doi: 10.3390/genes12081277. PMID: 34440452Free PMC Article
A novel missense mutation in the ACTG1 gene in a family with congenital autosomal dominant deafness: A case report.
Lee CG, Jang J, Jin HS
Mol Med Rep 2018 Jun;17(6):7611-7617. Epub 2018 Mar 29 doi: 10.3892/mmr.2018.8837. PMID: 29620237Free PMC Article
A novel variant in MITF in a child from Yunnan-Guizhou Plateau with autosomal dominant inheritance of nonsyndromic hearing loss: A case report.
Zhang Z, Chen QD, Zhao LP, Ma J, Zhang TS, Pang JX, Li YF, Wang MF, Wang AP, Tang L, Li LJ, He WJ, Gu H
Mol Med Rep 2018 Apr;17(4):6054-6058. Epub 2018 Feb 22 doi: 10.3892/mmr.2018.8627. PMID: 29484430

Prognosis

A novel missense mutation in the ACTG1 gene in a family with congenital autosomal dominant deafness: A case report.
Lee CG, Jang J, Jin HS
Mol Med Rep 2018 Jun;17(6):7611-7617. Epub 2018 Mar 29 doi: 10.3892/mmr.2018.8837. PMID: 29620237Free PMC Article
Identification of OSBPL2 as a novel candidate gene for progressive nonsyndromic hearing loss by whole-exome sequencing.
Xing G, Yao J, Wu B, Liu T, Wei Q, Liu C, Lu Y, Chen Z, Zheng H, Yang X, Cao X
Genet Med 2015 Mar;17(3):210-8. Epub 2014 Jul 31 doi: 10.1038/gim.2014.90. PMID: 25077649
Mutations in the gamma-actin gene (ACTG1) are associated with dominant progressive deafness (DFNA20/26).
Zhu M, Yang T, Wei S, DeWan AT, Morell RJ, Elfenbein JL, Fisher RA, Leal SM, Smith RJ, Friderici KH
Am J Hum Genet 2003 Nov;73(5):1082-91. Epub 2003 Sep 16 doi: 10.1086/379286. PMID: 13680526Free PMC Article

Clinical prediction guides

A novel missense mutation in the ACTG1 gene in a family with congenital autosomal dominant deafness: A case report.
Lee CG, Jang J, Jin HS
Mol Med Rep 2018 Jun;17(6):7611-7617. Epub 2018 Mar 29 doi: 10.3892/mmr.2018.8837. PMID: 29620237Free PMC Article
Identification of OSBPL2 as a novel candidate gene for progressive nonsyndromic hearing loss by whole-exome sequencing.
Xing G, Yao J, Wu B, Liu T, Wei Q, Liu C, Lu Y, Chen Z, Zheng H, Yang X, Cao X
Genet Med 2015 Mar;17(3):210-8. Epub 2014 Jul 31 doi: 10.1038/gim.2014.90. PMID: 25077649
Mutations in the gamma-actin gene (ACTG1) are associated with dominant progressive deafness (DFNA20/26).
Zhu M, Yang T, Wei S, DeWan AT, Morell RJ, Elfenbein JL, Fisher RA, Leal SM, Smith RJ, Friderici KH
Am J Hum Genet 2003 Nov;73(5):1082-91. Epub 2003 Sep 16 doi: 10.1086/379286. PMID: 13680526Free PMC Article
A novel locus for autosomal dominant nonsyndromic hearing loss identified at 5q31.1-32 in a Chinese pedigree.
Xia J, Deng H, Feng Y, Zhang H, Pan Q, Dai H, Long Z, Tang B, Deng H, Chen Y, Zhang R, Zheng D, He Y, Xia K
J Hum Genet 2002;47(12):635-40. doi: 10.1007/s100380200098. PMID: 12522684

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