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Autosomal recessive nonsyndromic hearing loss 47(DFNB47)

MedGen UID:
355339
•Concept ID:
C1864964
•
Disease or Syndrome
Synonyms: Autosomal recessive nonsyndromic deafness 47; DEAFNESS, AUTOSOMAL RECESSIVE 47; Deafness, neurosensory, autosomal recessive 47
 
Monarch Initiative: MONDO:0012375
OMIM®: 609946

Definition

An autosomal recessive nonsyndromic deafness that has material basis in variation in the chromosome region 2p25.1-p24.3. [from MONDO]

Clinical features

From HPO
Hearing impairment
MedGen UID:
235586
•Concept ID:
C1384666
•
Disease or Syndrome
A decreased magnitude of the sensory perception of sound.
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
Reduced visual acuity
MedGen UID:
65889
•Concept ID:
C0234632
•
Finding
Diminished clarity of vision.
See: Feature record | Search on this feature
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Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  

Recent clinical studies

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

Prognosis

Homozygous mutations in Pakistani consanguineous families with prelingual nonsyndromic hearing loss.
Park HR, Kanwal S, Lim SO, Nam DE, Choi YJ, Chung KW
Mol Biol Rep 2020 Dec;47(12):9979-9985. Epub 2020 Dec 2 doi: 10.1007/s11033-020-06037-7. PMID: 33269433

Clinical prediction guides

Homozygous mutations in Pakistani consanguineous families with prelingual nonsyndromic hearing loss.
Park HR, Kanwal S, Lim SO, Nam DE, Choi YJ, Chung KW
Mol Biol Rep 2020 Dec;47(12):9979-9985. Epub 2020 Dec 2 doi: 10.1007/s11033-020-06037-7. PMID: 33269433
Progressive hearing loss and vestibular dysfunction caused by a homozygous nonsense mutation in CLIC5.
Seco CZ, Oonk AM, Domínguez-Ruiz M, Draaisma JM, Gandía M, Oostrik J, Neveling K, Kunst HP, Hoefsloot LH, del Castillo I, Pennings RJ, Kremer H, Admiraal RJ, Schraders M
Eur J Hum Genet 2015 Feb;23(2):189-94. Epub 2014 Apr 30 doi: 10.1038/ejhg.2014.83. PMID: 24781754Free PMC Article

Supplemental Content

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    Clinical resources

    Reviews

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    • OMIM
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