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Autosomal dominant nonsyndromic hearing loss 22(DFNA22)

MedGen UID:
419894
Concept ID:
C2931767
Disease or Syndrome
Synonyms: Autosomal dominant nonsyndromic deafness 22; Deafness, autosomal dominant 22; Deafness, autosomal dominant nonsyndromic sensorineural 22; DFNA 22; DFNA22 Nonsyndromic Hearing Loss and Deafness
 
Gene (location): MYO6 (6q14.1)
 
Monarch Initiative: MONDO:0011660
OMIM®: 606346

Definition

Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the MYO6 gene. [from MONDO]

Clinical features

From HPO
Sensorineural hearing loss disorder
MedGen UID:
9164
Concept ID:
C0018784
Disease or Syndrome
A type of hearing impairment in one or both ears related to an abnormal functionality of the cochlear nerve.
Progressive sensorineural hearing impairment
MedGen UID:
335894
Concept ID:
C1843156
Disease or Syndrome
A progressive form of sensorineural hearing impairment.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  

Recent clinical studies

Etiology

Kim BJ, Han JH, Park HR, Kim MY, Kim AR, Oh SH, Park WY, Oh DY, Lee S, Choi BY
J Gene Med 2018 Jun;20(6):e3019. Epub 2018 Apr 30 doi: 10.1002/jgm.3019. PMID: 29607572
Meyer CG, Gasmelseed NM, Mergani A, Magzoub MM, Muntau B, Thye T, Horstmann RD
Hum Mutat 2005 Jan;25(1):100. doi: 10.1002/humu.9302. PMID: 15605408

Diagnosis

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
Wu X, Gao X, Han P, Zhou Y
Acta Otolaryngol 2019 Mar;139(3):243-250. Epub 2019 Feb 14 doi: 10.1080/00016489.2018.1552015. PMID: 30762455
Cheng J, Zhou X, Lu Y, Chen J, Han B, Zhu Y, Liu L, Choy KW, Han D, Sham PC, Zhang MQ, Zhang X, Yuan H
Ann Hum Genet 2014 Nov;78(6):410-23. Epub 2014 Sep 17 doi: 10.1111/ahg.12084. PMID: 25227905

Clinical prediction guides

Wang J, Shen J, Guo L, Cheng C, Chai R, Shu Y, Li H
Hear Res 2019 Aug;379:79-88. Epub 2019 Apr 26 doi: 10.1016/j.heares.2019.04.014. PMID: 31103816
Kim BJ, Han JH, Park HR, Kim MY, Kim AR, Oh SH, Park WY, Oh DY, Lee S, Choi BY
J Gene Med 2018 Jun;20(6):e3019. Epub 2018 Apr 30 doi: 10.1002/jgm.3019. PMID: 29607572
Meyer CG, Gasmelseed NM, Mergani A, Magzoub MM, Muntau B, Thye T, Horstmann RD
Hum Mutat 2005 Jan;25(1):100. doi: 10.1002/humu.9302. PMID: 15605408
Salam AA, Häfner FM, Linder TE, Spillmann T, Schinzel AA, Leal SM
Am J Hum Genet 2000 Jun;66(6):1984-8. Epub 2000 Apr 24 doi: 10.1086/302931. PMID: 10777717Free PMC Article

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