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Autosomal dominant nonsyndromic hearing loss 47(DFNA47)

MedGen UID:
324838
•Concept ID:
C1837609
•
Disease or Syndrome
Synonym: Deafness, autosomal dominant 47
 
Monarch Initiative: MONDO:0012090
OMIM®: 608652

Definition

An autosomal dominant nonsyndromic deafness that has material basis in variation in the chromosome region 9p22-p21. [from MONDO]

Clinical features

From HPO
Sensorineural hearing impairment
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

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  

Recent clinical studies

Etiology

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

Diagnosis

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

Therapy

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

Clinical prediction guides

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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    Clinical resources

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    • OMIM
      Related records in OMIM
    • PMC Articles
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