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Autosomal recessive nonsyndromic hearing loss 45(DFNB45)

MedGen UID:
854732
•Concept ID:
C3888030
•
Disease or Syndrome
Synonym: Deafness, autosomal recessive 45
 
Monarch Initiative: MONDO:0012903
OMIM®: 612433

Definition

An autosomal recessive nonsyndromic deafness that has material basis in variation in the chromosome region 1q43-q44. [from MONDO]

Clinical features

From HPO
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
Prelingual sensorineural hearing impairment
MedGen UID:
867432
•Concept ID:
C4021806
•
Disease or Syndrome
A form of sensorineural deafness with either congenital onset or infantile onset, i.e., before the acquisition of speech.
See: Feature record | Search on this feature

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  

Recent clinical studies

Etiology

Biallelic mutations in pakistani families with autosomal recessive prelingual nonsyndromic hearing loss.
Choi HJ, Kanwal S, Hameed R, Tamanna N, Perveen S, Mahreen H, Son W, Lee KS, Chung KW
Genes Genomics 2023 Feb;45(2):145-156. Epub 2022 Dec 6 doi: 10.1007/s13258-022-01349-3. PMID: 36472766
Hair phenotype in non-syndromic deafness.
Volo T, Sathiyaseelan T, Astolfi L, Guaran V, Trevisi P, Emanuelli E, Martini A
Int J Pediatr Otorhinolaryngol 2013 Aug;77(8):1280-5. Epub 2013 Jun 14 doi: 10.1016/j.ijporl.2013.05.010. PMID: 23751281
Carrier rates of the ancestral Indian W24X mutation in GJB2 in the general Gypsy population and individual subisolates.
Bouwer S, Angelicheva D, Chandler D, Seeman P, Tournev I, Kalaydjieva L
Genet Test 2007 Winter;11(4):455-8. doi: 10.1089/gte.2007.0048. PMID: 18294064

Diagnosis

Biallelic mutations in pakistani families with autosomal recessive prelingual nonsyndromic hearing loss.
Choi HJ, Kanwal S, Hameed R, Tamanna N, Perveen S, Mahreen H, Son W, Lee KS, Chung KW
Genes Genomics 2023 Feb;45(2):145-156. Epub 2022 Dec 6 doi: 10.1007/s13258-022-01349-3. PMID: 36472766
Mutation analysis of SLC26A4 for Pendred syndrome and nonsyndromic hearing loss by high-resolution melting.
Chen N, Tranebjærg L, Rendtorff ND, Schrijver I
J Mol Diagn 2011 Jul;13(4):416-26. Epub 2011 Apr 29 doi: 10.1016/j.jmoldx.2011.03.003. PMID: 21704276Free PMC Article
Carrier rates of the ancestral Indian W24X mutation in GJB2 in the general Gypsy population and individual subisolates.
Bouwer S, Angelicheva D, Chandler D, Seeman P, Tournev I, Kalaydjieva L
Genet Test 2007 Winter;11(4):455-8. doi: 10.1089/gte.2007.0048. PMID: 18294064

Prognosis

Biallelic mutations in pakistani families with autosomal recessive prelingual nonsyndromic hearing loss.
Choi HJ, Kanwal S, Hameed R, Tamanna N, Perveen S, Mahreen H, Son W, Lee KS, Chung KW
Genes Genomics 2023 Feb;45(2):145-156. Epub 2022 Dec 6 doi: 10.1007/s13258-022-01349-3. PMID: 36472766

Clinical prediction guides

Biallelic mutations in pakistani families with autosomal recessive prelingual nonsyndromic hearing loss.
Choi HJ, Kanwal S, Hameed R, Tamanna N, Perveen S, Mahreen H, Son W, Lee KS, Chung KW
Genes Genomics 2023 Feb;45(2):145-156. Epub 2022 Dec 6 doi: 10.1007/s13258-022-01349-3. PMID: 36472766

Supplemental Content

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    Clinical resources

    Reviews

    Related information

    • OMIM
      Related records in OMIM
    • PMC Articles
      Related information in PubMed Central Links
    • PubMed
      Related literature resources in PubMed

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