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Autosomal recessive nonsyndromic hearing loss 12(DFNB12)

MedGen UID:
330455
•Concept ID:
C1832394
•
Disease or Syndrome
Synonyms: Deafness, autosomal recessive 12; DFNB12 Nonsyndromic Hearing Loss and Deafness
 
Genes (locations): ATP2B2 (3p25.3); CDH23 (10q22.1)
 
Monarch Initiative: MONDO:0011067
OMIM®: 601386

Definition

A genetic condition inherited in an autosomal recessive caused by mutation(s) in the CDH23 gene, encoding cadherin-23, characterized by progressive sensorineural hearing loss. Mutation(s) in the CDH23 gene may also cause Usher syndrome 1D. [from NCI]

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
Rod-cone dystrophy
MedGen UID:
1632921
•Concept ID:
C4551714
•
Disease or Syndrome
An inherited retinal disease subtype in which the rod photoreceptors appear to be more severely affected than the cone photoreceptors. Typical presentation is with nyctalopia (due to rod dysfunction) followed by loss of mid-peripheral field of vision, which gradually extends and leaves many patients with a small central island of vision due to the preservation of macular cones.
See: Feature record | Search on this feature
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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
Prevalence of GJB2 (connexin-26) and GJB6 (connexin-30) mutations in a cohort of 300 Brazilian hearing-impaired individuals: implications for diagnosis and genetic counseling.
Batissoco AC, Abreu-Silva RS, Braga MC, Lezirovitz K, Della-Rosa V, Alfredo T Jr, Otto PA, Mingroni-Netto RC
Ear Hear 2009 Feb;30(1):1-7. doi: 10.1097/AUD.0b013e31819144ad. PMID: 19125024

Recent clinical studies

Etiology

Non-Syndromic Hearing Loss in a Romanian Population: Carrier Status and Frequent Variants in the GJB2 Gene.
Riza AL, Alkhzouz C, Farcaș M, Pîrvu A, Miclea D, Mihuț G, Pleșea RM, Ștefan D, Drodar M, Lazăr C, On Behalf Of The Hint Study, On Behalf Of The Fuse Study, Ioana M, Popp R
Genes (Basel) 2022 Dec 26;14(1) doi: 10.3390/genes14010069. PMID: 36672810Free PMC Article
Identification of novel variants in Iranian consanguineous pedigrees with nonsyndromic hearing loss by next-generation sequencing.
Bitarafan F, Seyedena SY, Mahmoudi M, Garshasbi M
J Clin Lab Anal 2020 Dec;34(12):e23544. Epub 2020 Aug 30 doi: 10.1002/jcla.23544. PMID: 32864763Free PMC Article
A quantitative cSMART assay for noninvasive prenatal screening of autosomal recessive nonsyndromic hearing loss caused by GJB2 and SLC26A4 mutations.
Han M, Li Z, Wang W, Huang S, Lu Y, Gao Z, Wang L, Kang D, Li L, Liu Y, Xu M, Cram DS, Dai P
Genet Med 2017 Dec;19(12):1309-1316. Epub 2017 May 25 doi: 10.1038/gim.2017.54. PMID: 28541280
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
Nonsyndromic hearing loss: an analysis of audiograms.
Liu X, Xu L
Ann Otol Rhinol Laryngol 1994 Jun;103(6):428-33. doi: 10.1177/000348949410300602. PMID: 8203808

Diagnosis

Non-Syndromic Hearing Loss in a Romanian Population: Carrier Status and Frequent Variants in the GJB2 Gene.
Riza AL, Alkhzouz C, Farcaș M, Pîrvu A, Miclea D, Mihuț G, Pleșea RM, Ștefan D, Drodar M, Lazăr C, On Behalf Of The Hint Study, On Behalf Of The Fuse Study, Ioana M, Popp R
Genes (Basel) 2022 Dec 26;14(1) doi: 10.3390/genes14010069. PMID: 36672810Free 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
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
Identification of novel variants in Iranian consanguineous pedigrees with nonsyndromic hearing loss by next-generation sequencing.
Bitarafan F, Seyedena SY, Mahmoudi M, Garshasbi M
J Clin Lab Anal 2020 Dec;34(12):e23544. Epub 2020 Aug 30 doi: 10.1002/jcla.23544. PMID: 32864763Free PMC Article
Preimplantation genetic diagnosis (PGD) for nonsyndromic deafness by polar body and blastomere biopsy.
Altarescu G, Eldar-Geva T, Brooks B, Zylber-Haran E, Varshaver I, Margalioth EJ, Levy-Lahad E, Renbaum P
J Assist Reprod Genet 2009 Jul;26(7):391-7. doi: 10.1007/s10815-009-9335-5. PMID: 19728075Free PMC Article

Therapy

Improving the Management of Patients with Hearing Loss by the Implementation of an NGS Panel in Clinical Practice.
García-García G, Berzal-Serrano A, García-Díaz P, Villanova-Aparisi R, Juárez-Rodríguez S, de Paula-Vernetta C, Cavallé-Garrido L, Jaijo T, Armengot-Carceller M, Millán JM, Aller E
Genes (Basel) 2020 Dec 7;11(12) doi: 10.3390/genes11121467. PMID: 33297549Free PMC Article
Genotyping data and novel haplotype diversity of STR markers in the SLC26A4 gene region in five ethnic groups of the Iranian population.
Mojtabavi Naeini M, Mesrian Tanha H, Hashemzadeh Chaleshtori M, Vallian S
Genet Test Mol Biomarkers 2014 Dec;18(12):820-5. doi: 10.1089/gtmb.2014.0178. PMID: 25390158Free PMC Article

Prognosis

Identification of Novel CDH23 Variants Causing Moderate to Profound Progressive Nonsyndromic Hearing Loss.
Ramzan K, Al-Numair NS, Al-Ageel S, Elbaik L, Sakati N, Al-Hazzaa SAF, Al-Owain M, Imtiaz F
Genes (Basel) 2020 Dec 9;11(12) doi: 10.3390/genes11121474. PMID: 33316915Free PMC Article
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
Novel loss-of-function mutations in COCH cause autosomal recessive nonsyndromic hearing loss.
Booth KT, Ghaffar A, Rashid M, Hovey LT, Hussain M, Frees K, Renkes EM, Nishimura CJ, Shahzad M, Smith RJ, Ahmed Z, Azaiez H, Riazuddin S
Hum Genet 2020 Dec;139(12):1565-1574. Epub 2020 Jun 19 doi: 10.1007/s00439-020-02197-5. PMID: 32562050Free PMC Article
Targeted genomic capture and massively parallel sequencing to identify novel variants causing Chinese hereditary hearing loss.
Wei Q, Zhu H, Qian X, Chen Z, Yao J, Lu Y, Cao X, Xing G
J Transl Med 2014 Nov 12;12:311. doi: 10.1186/s12967-014-0311-1. PMID: 25388789Free PMC Article
Alterations of the CIB2 calcium- and integrin-binding protein cause Usher syndrome type 1J and nonsyndromic deafness DFNB48.
Riazuddin S, Belyantseva IA, Giese AP, Lee K, Indzhykulian AA, Nandamuri SP, Yousaf R, Sinha GP, Lee S, Terrell D, Hegde RS, Ali RA, Anwar S, Andrade-Elizondo PB, Sirmaci A, Parise LV, Basit S, Wali A, Ayub M, Ansar M, Ahmad W, Khan SN, Akram J, Tekin M, Riazuddin S, Cook T, Buschbeck EK, Frolenkov GI, Leal SM, Friedman TB, Ahmed ZM
Nat Genet 2012 Nov;44(11):1265-71. Epub 2012 Sep 30 doi: 10.1038/ng.2426. PMID: 23023331Free PMC Article

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
Novel loss-of-function mutations in COCH cause autosomal recessive nonsyndromic hearing loss.
Booth KT, Ghaffar A, Rashid M, Hovey LT, Hussain M, Frees K, Renkes EM, Nishimura CJ, Shahzad M, Smith RJ, Ahmed Z, Azaiez H, Riazuddin S
Hum Genet 2020 Dec;139(12):1565-1574. Epub 2020 Jun 19 doi: 10.1007/s00439-020-02197-5. PMID: 32562050Free PMC Article
Identification of TMC1 as a relatively common cause for nonsyndromic hearing loss in the Saudi population.
Ramzan K, Al-Owain M, Al-Numair NS, Afzal S, Al-Ageel S, Al-Amer S, Al-Baik L, Al-Otaibi GF, Hashem A, Al-Mashharawi E, Basit S, Al-Mazroea AH, Softah A, Sogaty S, Imtiaz F
Am J Med Genet B Neuropsychiatr Genet 2020 Apr;183(3):172-180. Epub 2019 Dec 19 doi: 10.1002/ajmg.b.32774. PMID: 31854501
Whole-exome sequencing efficiently detects rare mutations in autosomal recessive nonsyndromic hearing loss.
Diaz-Horta O, Duman D, Foster J 2nd, Sırmacı A, Gonzalez M, Mahdieh N, Fotouhi N, Bonyadi M, Cengiz FB, Menendez I, Ulloa RH, Edwards YJ, Züchner S, Blanton S, Tekin M
PLoS One 2012;7(11):e50628. Epub 2012 Nov 30 doi: 10.1371/journal.pone.0050628. PMID: 23226338Free PMC Article
Mapping of a new autosomal recessive nonsyndromic hearing loss locus (DFNB32) to chromosome 1p13.3-22.1.
Masmoudi S, Tlili A, Majava M, Ghorbel AM, Chardenoux S, Lemainque A, Zina ZB, Moala J, Männikkö M, Weil D, Lathrop M, Ala-Kokko L, Drira M, Petit C, Ayadi H
Eur J Hum Genet 2003 Feb;11(2):185-8. doi: 10.1038/sj.ejhg.5200934. PMID: 12634867

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