U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Autosomal recessive nonsyndromic hearing loss 13(DFNB13)

MedGen UID:
350361
•Concept ID:
C1864199
•
Disease or Syndrome
Synonym: Deafness, autosomal recessive 13
 
Monarch Initiative: MONDO:0011286
OMIM®: 603098

Definition

An autosomal recessive nonsyndromic deafness that has material basis in variation in the chromosome region 7q34-q36. [from MONDO]

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
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

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  

Professional guidelines

PubMed

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

GJB2 p.V37I Mutation Associated With Moderate Nonsyndromic Hearing Loss in an Adult Taiwanese Population.
Yen TT, Chen IC, Cho S, Chang TG, Shih KH, Hua MW, Li JL, Hsu CY, Hsiao TH, Chen YM
Ear Hear 2023 Nov-Dec 01;44(6):1423-1429. Epub 2023 Jun 5 doi: 10.1097/AUD.0000000000001384. PMID: 37271870
GJB2 mutations in Iranian Azeri population with autosomal recessive nonsyndromic hearing loss (ARNSHL): First report of c.238 C>A mutation in Iran.
Abbaspour Rodbaneh E, Panahi M, Rahimi B, Mokabber H, Farajollahi R, Davarnia B
J Clin Lab Anal 2021 Nov;35(11):e24024. Epub 2021 Sep 28 doi: 10.1002/jcla.24024. PMID: 34581455Free PMC Article
TSPEAR variants are primarily associated with ectodermal dysplasia and tooth agenesis but not hearing loss: A novel cohort study.
Bowles B, Ferrer A, Nishimura CJ, Pinto E Vairo F, Rey T, Leheup B, Sullivan J, Schoch K, Stong N, Agolini E, Cocciadiferro D, Williams A, Cummings A, Loddo S, Genovese S, Roadhouse C, McWalter K; Undiagnosed Diseases Network, Wentzensen IM, Li C, Babovic-Vuksanovic D, Lanpher BC, Dentici ML, Ankala A, Hamm JA, Dallapiccola B, Radio FC, Shashi V, Gérard B, Bloch-Zupan A, Smith RJ, Klee EW
Am J Med Genet A 2021 Aug;185(8):2417-2433. Epub 2021 May 27 doi: 10.1002/ajmg.a.62347. PMID: 34042254Free PMC Article
A novel missense mutation in the SLC26A4 gene causes nonsyndromic hearing loss and enlarged vestibular aqueduct.
He X, Peng Q, Li S, Zhu P, Wu C, Rao C, Chang J, Xie M, Zhong B, Lu X
Int J Pediatr Otorhinolaryngol 2017 Apr;95:104-108. Epub 2017 Feb 14 doi: 10.1016/j.ijporl.2017.02.013. PMID: 28576516
Spectrum of GJB2 (Cx26) gene mutations in Iranian Azeri patients with nonsyndromic autosomal recessive hearing loss.
Davarnia B, Babanejad M, Fattahi Z, Nikzat N, Bazazzadegan N, Pirzade A, Farajollahi R, Nishimura C, Jalalvand K, Arzhangi S, Kahrizi K, Smith RJ, Najmabadi H
Int J Pediatr Otorhinolaryngol 2012 Feb;76(2):268-71. Epub 2011 Dec 14 doi: 10.1016/j.ijporl.2011.11.019. PMID: 22172221

Diagnosis

TSPEAR variants are primarily associated with ectodermal dysplasia and tooth agenesis but not hearing loss: A novel cohort study.
Bowles B, Ferrer A, Nishimura CJ, Pinto E Vairo F, Rey T, Leheup B, Sullivan J, Schoch K, Stong N, Agolini E, Cocciadiferro D, Williams A, Cummings A, Loddo S, Genovese S, Roadhouse C, McWalter K; Undiagnosed Diseases Network, Wentzensen IM, Li C, Babovic-Vuksanovic D, Lanpher BC, Dentici ML, Ankala A, Hamm JA, Dallapiccola B, Radio FC, Shashi V, Gérard B, Bloch-Zupan A, Smith RJ, Klee EW
Am J Med Genet A 2021 Aug;185(8):2417-2433. Epub 2021 May 27 doi: 10.1002/ajmg.a.62347. PMID: 34042254Free PMC Article
Whole-exome sequencing identifies MYO15A mutations as a cause of autosomal recessive nonsyndromic hearing loss in Korean families.
Woo HM, Park HJ, Baek JI, Park MH, Kim UK, Sagong B, Koo SK
BMC Med Genet 2013 Jul 17;14:72. doi: 10.1186/1471-2350-14-72. PMID: 23865914Free PMC Article
Spectrum of GJB2 (Cx26) gene mutations in Iranian Azeri patients with nonsyndromic autosomal recessive hearing loss.
Davarnia B, Babanejad M, Fattahi Z, Nikzat N, Bazazzadegan N, Pirzade A, Farajollahi R, Nishimura C, Jalalvand K, Arzhangi S, Kahrizi K, Smith RJ, Najmabadi H
Int J Pediatr Otorhinolaryngol 2012 Feb;76(2):268-71. Epub 2011 Dec 14 doi: 10.1016/j.ijporl.2011.11.019. PMID: 22172221
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
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

Therapy

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

A novel missense mutation in the SLC26A4 gene causes nonsyndromic hearing loss and enlarged vestibular aqueduct.
He X, Peng Q, Li S, Zhu P, Wu C, Rao C, Chang J, Xie M, Zhong B, Lu X
Int J Pediatr Otorhinolaryngol 2017 Apr;95:104-108. Epub 2017 Feb 14 doi: 10.1016/j.ijporl.2017.02.013. PMID: 28576516
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
Mutations in the first MyTH4 domain of MYO15A are a common cause of DFNB3 hearing loss.
Shearer AE, Hildebrand MS, Webster JA, Kahrizi K, Meyer NC, Jalalvand K, Arzhanginy S, Kimberling WJ, Stephan D, Bahlo M, Smith RJ, Najmabadi H
Laryngoscope 2009 Apr;119(4):727-33. doi: 10.1002/lary.20116. PMID: 19274735Free PMC Article

Clinical prediction guides

Elucidation of repeat motifs R1- and R2-related TRIOBP variants in autosomal recessive nonsyndromic hearing loss DFNB28 among indigenous South African individuals.
Kabahuma RI, Schubert WD, Labuschagne C, Yan D, Pepper MS, Liu XZ
Mol Genet Genomic Med 2022 Oct;10(10):e2015. Epub 2022 Aug 27 doi: 10.1002/mgg3.2015. PMID: 36029164Free PMC Article
A novel missense mutation in the SLC26A4 gene causes nonsyndromic hearing loss and enlarged vestibular aqueduct.
He X, Peng Q, Li S, Zhu P, Wu C, Rao C, Chang J, Xie M, Zhong B, Lu X
Int J Pediatr Otorhinolaryngol 2017 Apr;95:104-108. Epub 2017 Feb 14 doi: 10.1016/j.ijporl.2017.02.013. PMID: 28576516
A new large deletion in the DFNB1 locus causes nonsyndromic hearing loss.
Feldmann D, Le Maréchal C, Jonard L, Thierry P, Czajka C, Couderc R, Ferec C, Denoyelle F, Marlin S, Fellmann F
Eur J Med Genet 2009 Jul-Aug;52(4):195-200. Epub 2008 Dec 13 doi: 10.1016/j.ejmg.2008.11.006. PMID: 19101659
Four novel TMC1 (DFNB7/DFNB11) mutations in Turkish patients with congenital autosomal recessive nonsyndromic hearing loss.
Kalay E, Karaguzel A, Caylan R, Heister A, Cremers FP, Cremers CW, Brunner HG, de Brouwer AP, Kremer H
Hum Mutat 2005 Dec;26(6):591. doi: 10.1002/humu.9384. PMID: 16287143
Novel mutations in the connexin 26 gene (GJB2) that cause autosomal recessive (DFNB1) hearing loss.
Kelley PM, Harris DJ, Comer BC, Askew JW, Fowler T, Smith SD, Kimberling WJ
Am J Hum Genet 1998 Apr;62(4):792-9. doi: 10.1086/301807. PMID: 9529365Free PMC Article

Supplemental Content

Table of contents

    Clinical resources

    Practice guidelines

    • PubMed
      See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.

    Reviews

    Related information

    • MeSH
      Related Medical Subject Headings
    • OMIM
      Related records in OMIM
    • PMC Articles
      Related information in PubMed Central Links
    • PubMed
      Related literature resources in PubMed
    • PubMed (OMIM)
      Related literature resources in PubMed

    Recent activity

    Clear Turn Off Turn On

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...