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Autosomal recessive nonsyndromic hearing loss 46(DFNB46)

MedGen UID:
355302
•Concept ID:
C1864815
•
Disease or Syndrome
Synonym: Deafness, autosomal recessive 46
 
Monarch Initiative: MONDO:0012327
OMIM®: 609647

Definition

An autosomal recessive nonsyndromic deafness that has material basis in variation in the chromosome region 18p11.32-p11.31. [from MONDO]

Clinical features

From HPO
Profound sensorineural hearing impairment
MedGen UID:
868926
•Concept ID:
C4023338
•
Disease or Syndrome
Complete loss of hearing related to a sensorineural defect.
See: Feature record | Search on this feature

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  

Professional guidelines

PubMed

Addition of an affected family member to a previously ascertained autosomal recessive nonsyndromic hearing loss pedigree and systematic phenotype-genotype analysis of splice-site variants in MYO15A.
Yang JY, Wang WQ, Han MY, Huang SS, Wang GJ, Su Y, Xu JC, Fu Y, Kang DY, Yang K, Zhang X, Liu X, Gao X, Yuan YY, Dai P
BMC Med Genomics 2022 Nov 18;15(1):241. doi: 10.1186/s12920-022-01368-9. PMID: 36401330Free PMC Article

Recent clinical studies

Etiology

Clinical studies of families with hearing loss attributable to mutations in the connexin 26 gene (GJB2/DFNB1).
Cohn ES, Kelley PM, Fowler TW, Gorga MP, Lefkowitz DM, Kuehn HJ, Schaefer GB, Gobar LS, Hahn FJ, Harris DJ, Kimberling WJ
Pediatrics 1999 Mar;103(3):546-50. doi: 10.1542/peds.103.3.546. PMID: 10049954

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
Moderate sensorineural hearing loss is typical for DFNB16 caused by various types of mutations affecting the STRC gene.
Čada Z, Šafka Brožková D, Balatková Z, Plevová P, Rašková D, Laštůvková J, Černý R, Bandúrová V, Koucký V, Hrubá S, Komarc M, Jenčík J, Poisson Marková S, Plzák J, Kluh J, Seeman P
Eur Arch Otorhinolaryngol 2019 Dec;276(12):3353-3358. Epub 2019 Sep 24 doi: 10.1007/s00405-019-05649-5. PMID: 31552524
Identification of TMPRSS3 as a Significant Contributor to Autosomal Recessive Hearing Loss in the Chinese Population.
Gao X, Huang SS, Yuan YY, Xu JC, Gu P, Bai D, Kang DY, Han MY, Wang GJ, Zhang MG, Li J, Dai P
Neural Plast 2017;2017:3192090. Epub 2017 Jun 13 doi: 10.1155/2017/3192090. PMID: 28695016Free PMC Article
Forty-six genes causing nonsyndromic hearing impairment: which ones should be analyzed in DNA diagnostics?
Hilgert N, Smith RJH, Van Camp G
Mutat Res 2009 Mar-Jun;681(2-3):189-196. Epub 2008 Aug 29 doi: 10.1016/j.mrrev.2008.08.002. PMID: 18804553Free PMC Article
Connexin 26 mutations in autosomal recessive deafness disorders: a review.
Apps SA, Rankin WA, Kurmis AP
Int J Audiol 2007 Feb;46(2):75-81. doi: 10.1080/14992020600582190. PMID: 17365058

Prognosis

Identification of CDH23 mutations in Korean families with hearing loss by whole-exome sequencing.
Woo HM, Park HJ, Park MH, Kim BY, Shin JW, Yoo WG, Koo SK
BMC Med Genet 2014 Apr 28;15:46. doi: 10.1186/1471-2350-15-46. PMID: 24767429Free PMC Article

Clinical prediction guides

Identification of TMPRSS3 as a Significant Contributor to Autosomal Recessive Hearing Loss in the Chinese Population.
Gao X, Huang SS, Yuan YY, Xu JC, Gu P, Bai D, Kang DY, Han MY, Wang GJ, Zhang MG, Li J, Dai P
Neural Plast 2017;2017:3192090. Epub 2017 Jun 13 doi: 10.1155/2017/3192090. PMID: 28695016Free PMC Article
Identification of CDH23 mutations in Korean families with hearing loss by whole-exome sequencing.
Woo HM, Park HJ, Park MH, Kim BY, Shin JW, Yoo WG, Koo SK
BMC Med Genet 2014 Apr 28;15:46. doi: 10.1186/1471-2350-15-46. PMID: 24767429Free PMC Article
Vestibular dysfunction in DFNB1 deafness.
Dodson KM, Blanton SH, Welch KO, Norris VW, Nuzzo RL, Wegelin JA, Marin RS, Nance WE, Pandya A, Arnos KS
Am J Med Genet A 2011 May;155A(5):993-1000. Epub 2011 Apr 4 doi: 10.1002/ajmg.a.33828. PMID: 21465647Free PMC Article
Connexin 26 mutations in autosomal recessive deafness disorders: a review.
Apps SA, Rankin WA, Kurmis AP
Int J Audiol 2007 Feb;46(2):75-81. doi: 10.1080/14992020600582190. PMID: 17365058
Clinical studies of families with hearing loss attributable to mutations in the connexin 26 gene (GJB2/DFNB1).
Cohn ES, Kelley PM, Fowler TW, Gorga MP, Lefkowitz DM, Kuehn HJ, Schaefer GB, Gobar LS, Hahn FJ, Harris DJ, Kimberling WJ
Pediatrics 1999 Mar;103(3):546-50. doi: 10.1542/peds.103.3.546. PMID: 10049954

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