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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.
See: Feature record | Search on this feature
Progressive sensorineural hearing impairment
MedGen UID:
335894
•Concept ID:
C1843156
•
Disease or Syndrome
A progressive form of sensorineural hearing impairment.
See: Feature record | Search on this feature

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  

Recent clinical studies

Etiology

A clinical guidance to DFNA22 drawn from a Korean cohort study with an autosomal dominant deaf population: A retrospective cohort study.
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
Novel TMC1 structural and splice variants associated with congenital nonsyndromic deafness in a Sudanese pedigree.
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

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
Identification of causative variants in patients with non-syndromic hearing loss in the Minnan region, China by targeted next-generation sequencing.
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
Exome sequencing identifies a novel frameshift mutation of MYO6 as the cause of autosomal dominant nonsyndromic hearing loss in a Chinese family.
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

A humanized mouse model, demonstrating progressive hearing loss caused by MYO6 p.C442Y, is inherited in a semi-dominant pattern.
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
A clinical guidance to DFNA22 drawn from a Korean cohort study with an autosomal dominant deaf population: A retrospective cohort study.
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
Novel TMC1 structural and splice variants associated with congenital nonsyndromic deafness in a Sudanese pedigree.
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
A novel locus (DFNA23) for prelingual autosomal dominant nonsyndromic hearing loss maps to 14q21-q22 in a Swiss German kindred.
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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