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Autosomal recessive nonsyndromic hearing loss 26(DFNB26)

MedGen UID:
340185
•Concept ID:
C1854275
•
Disease or Syndrome
Synonym: Deafness, autosomal recessive 26
 
Gene (location): GAB1 (4q31.21)
 
Monarch Initiative: MONDO:0011553
OMIM®: 605428

Definition

DFNB26 is characterized by prelingual severe to profound nonsyndromic hearing loss (Yousaf et al., 2018). [from OMIM]

Clinical features

From HPO
Sensorineural hearing loss disorder
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  

Professional guidelines

PubMed

Targeted Linked-Read Sequencing for Direct Haplotype Phasing of Parental GJB2/SLC26A4 Alleles: A Universal and Dependable Noninvasive Prenatal Diagnosis Method Applied to Autosomal Recessive Nonsyndromic Hearing Loss in At-Risk Families.
Gao B, Jiang Y, Han M, Ji X, Zhang D, Wu L, Gao X, Huang S, Zhao C, Su Y, Yang S, Zhang X, Liu N, Han L, Wang L, Ren L, Yang J, Wu J, Yuan Y, Dai P
J Mol Diagn 2024 Jul;26(7):638-651. Epub 2024 Apr 23 doi: 10.1016/j.jmoldx.2024.04.002. PMID: 38663495
Expanded carrier screening for preconception reproductive risk assessment: Prevalence of carrier status in a Mexican population.
Hernandez-Nieto C, Alkon-Meadows T, Lee J, Cacchione T, Iyune-Cojab E, Garza-Galvan M, Luna-Rojas M, Copperman AB, Sandler B
Prenat Diagn 2020 Apr;40(5):635-643. Epub 2020 Feb 27 doi: 10.1002/pd.5656. PMID: 32003480
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
GJB2-related hearing loss in central Iran: Review of the spectrum and frequency of gene mutations.
Koohiyan M, Koohian F, Azadegan-Dehkordi F
Ann Hum Genet 2020 Mar;84(2):107-113. Epub 2019 Sep 11 doi: 10.1111/ahg.12354. PMID: 31512227
Consensus interpretation of the p.Met34Thr and p.Val37Ile variants in GJB2 by the ClinGen Hearing Loss Expert Panel.
Shen J, Oza AM, Del Castillo I, Duzkale H, Matsunaga T, Pandya A, Kang HP, Mar-Heyming R, Guha S, Moyer K, Lo C, Kenna M, Alexander JJ, Zhang Y, Hirsch Y, Luo M, Cao Y, Wai Choy K, Cheng YF, Avraham KB, Hu X, Garrido G, Moreno-Pelayo MA, Greinwald J, Zhang K, Zeng Y, Brownstein Z, Basel-Salmon L, Davidov B, Frydman M, Weiden T, Nagan N, Willis A, Hemphill SE, Grant AR, Siegert RK, DiStefano MT, Amr SS, Rehm HL, Abou Tayoun AN; ClinGen Hearing Loss Working Group
Genet Med 2019 Nov;21(11):2442-2452. Epub 2019 Jun 4 doi: 10.1038/s41436-019-0535-9. PMID: 31160754Free PMC Article
Nonsyndromic hereditary hearing loss.
Alford RL
Adv Otorhinolaryngol 2011;70:37-42. Epub 2011 Feb 24 doi: 10.1159/000322867. PMID: 21358183
GJB2 mutations and degree of hearing loss: a multicenter study.
Snoeckx RL, Huygen PL, Feldmann D, Marlin S, Denoyelle F, Waligora J, Mueller-Malesinska M, Pollak A, Ploski R, Murgia A, Orzan E, Castorina P, Ambrosetti U, Nowakowska-Szyrwinska E, Bal J, Wiszniewski W, Janecke AR, Nekahm-Heis D, Seeman P, Bendova O, Kenna MA, Frangulov A, Rehm HL, Tekin M, Incesulu A, Dahl HH, du Sart D, Jenkins L, Lucas D, Bitner-Glindzicz M, Avraham KB, Brownstein Z, del Castillo I, Moreno F, Blin N, Pfister M, Sziklai I, Toth T, Kelley PM, Cohn ES, Van Maldergem L, Hilbert P, Roux AF, Mondain M, Hoefsloot LH, Cremers CW, Löppönen T, Löppönen H, Parving A, Gronskov K, Schrijver I, Roberson J, Gualandi F, Martini A, Lina-Granade G, Pallares-Ruiz N, Correia C, Fialho G, Cryns K, Hilgert N, Van de Heyning P, Nishimura CJ, Smith RJ, Van Camp G
Am J Hum Genet 2005 Dec;77(6):945-57. Epub 2005 Oct 19 doi: 10.1086/497996. PMID: 16380907Free PMC Article

Diagnosis

Genetic Etiology of Nonsyndromic Hearing Loss in Hungarian Patients.
Pál M, Nagy D, Neller A, Farkas K, Leprán-Török D, Nagy N, Füstös D, Nagy R, Németh A, Szilvássy J, Rovó L, Kiss JG, Széll M
Int J Mol Sci 2023 Apr 17;24(8) doi: 10.3390/ijms24087401. PMID: 37108562Free PMC Article
DNA Diagnostics of Hereditary Hearing Loss: A Targeted Resequencing Approach Combined with a Mutation Classification System.
Sommen M, Schrauwen I, Vandeweyer G, Boeckx N, Corneveaux JJ, van den Ende J, Boudewyns A, De Leenheer E, Janssens S, Claes K, Verstreken M, Strenzke N, Predöhl F, Wuyts W, Mortier G, Bitner-Glindzicz M, Moser T, Coucke P, Huentelman MJ, Van Camp G
Hum Mutat 2016 Aug;37(8):812-9. Epub 2016 May 6 doi: 10.1002/humu.22999. PMID: 27068579
Genetics of Hearing Loss--Nonsyndromic.
Chang KW
Otolaryngol Clin North Am 2015 Dec;48(6):1063-72. Epub 2015 Aug 11 doi: 10.1016/j.otc.2015.06.005. PMID: 26275501
GJB2 mutations and degree of hearing loss: a multicenter study.
Snoeckx RL, Huygen PL, Feldmann D, Marlin S, Denoyelle F, Waligora J, Mueller-Malesinska M, Pollak A, Ploski R, Murgia A, Orzan E, Castorina P, Ambrosetti U, Nowakowska-Szyrwinska E, Bal J, Wiszniewski W, Janecke AR, Nekahm-Heis D, Seeman P, Bendova O, Kenna MA, Frangulov A, Rehm HL, Tekin M, Incesulu A, Dahl HH, du Sart D, Jenkins L, Lucas D, Bitner-Glindzicz M, Avraham KB, Brownstein Z, del Castillo I, Moreno F, Blin N, Pfister M, Sziklai I, Toth T, Kelley PM, Cohn ES, Van Maldergem L, Hilbert P, Roux AF, Mondain M, Hoefsloot LH, Cremers CW, Löppönen T, Löppönen H, Parving A, Gronskov K, Schrijver I, Roberson J, Gualandi F, Martini A, Lina-Granade G, Pallares-Ruiz N, Correia C, Fialho G, Cryns K, Hilgert N, Van de Heyning P, Nishimura CJ, Smith RJ, Van Camp G
Am J Hum Genet 2005 Dec;77(6):945-57. Epub 2005 Oct 19 doi: 10.1086/497996. PMID: 16380907Free PMC Article
Genetic causes of nonsyndromic hearing loss.
Skvorak Giersch AB, Morton CC
Curr Opin Pediatr 1999 Dec;11(6):551-7. doi: 10.1097/00008480-199912000-00014. PMID: 10590915

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
Single nucleotide polymorphisms of the GJB2 and GJB6 genes are associated with autosomal recessive nonsyndromic hearing loss.
Grillo AP, de Oliveira FM, de Carvalho GQ, Medrano RF, da Silva-Costa SM, Sartorato EL, de Oliveira CA
Biomed Res Int 2015;2015:318727. Epub 2015 May 17 doi: 10.1155/2015/318727. PMID: 26075227Free 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
Identification of copy number variants through whole-exome sequencing in autosomal recessive nonsyndromic hearing loss.
Bademci G, Diaz-Horta O, Guo S, Duman D, Van Booven D, Foster J 2nd, Cengiz FB, Blanton S, Tekin M
Genet Test Mol Biomarkers 2014 Sep;18(9):658-61. Epub 2014 Jul 25 doi: 10.1089/gtmb.2014.0121. PMID: 25062256Free PMC Article
Statistical study of 35delG mutation of GJB2 gene: a meta-analysis of carrier frequency.
Mahdieh N, Rabbani B
Int J Audiol 2009;48(6):363-70. doi: 10.1080/14992020802607449. PMID: 19925344

Prognosis

Identification of homozygous mutations for hearing loss.
Dianatpour M, Smith E, Hashemi SB, Farazifard MA, Nezafat N, Razban V, Mani A
Gene 2021 Apr 30;778:145464. Epub 2021 Jan 29 doi: 10.1016/j.gene.2021.145464. PMID: 33524517Free PMC Article
Functional characterization of a novel loss-of-function mutation of PRPS1 related to early-onset progressive nonsyndromic hearing loss in Koreans (DFNX1): Potential implications on future therapeutic intervention.
Kim SY, Kim AR, Kim NK, Lee C, Han JH, Kim MY, Jeon EH, Park WY, Mittal R, Yan D, Liu XZ, Choi BY
J Gene Med 2016 Nov;18(11-12):353-358. doi: 10.1002/jgm.2935. PMID: 27886419Free 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
Apparent phenotypic anticipation in autosomal dominant connexin 26 deafness.
Sokolov M, Brownstein Z, Frydman M, Avraham KB
J Basic Clin Physiol Pharmacol 2014 Sep;25(3):289-92. doi: 10.1515/jbcpp-2014-0053. PMID: 25153233Free PMC Article
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

Clinical prediction guides

Identification of homozygous mutations for hearing loss.
Dianatpour M, Smith E, Hashemi SB, Farazifard MA, Nezafat N, Razban V, Mani A
Gene 2021 Apr 30;778:145464. Epub 2021 Jan 29 doi: 10.1016/j.gene.2021.145464. PMID: 33524517Free PMC Article
Genetics of hearing loss in Africans: use of next generation sequencing is the best way forward.
Lebeko K, Bosch J, Noubiap JJ, Dandara C, Wonkam A
Pan Afr Med J 2015;20:383. Epub 2015 Apr 17 doi: 10.11604/pamj.2015.20.383.5230. PMID: 26185573Free PMC Article
Residual Hearing in DFNB1 Deafness and Its Clinical Implication in a Korean Population.
Kim SY, Kim AR, Han KH, Kim MY, Jeon EH, Koo JW, Oh SH, Choi BY
PLoS One 2015;10(6):e0125416. Epub 2015 Jun 10 doi: 10.1371/journal.pone.0125416. PMID: 26061264Free 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

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