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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.
Hearing impairment
MedGen UID:
235586
Concept ID:
C1384666
Disease or Syndrome
A decreased magnitude of the sensory perception of sound.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  

Professional guidelines

PubMed

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

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
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
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
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
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

Souissi A, Ben Said M, Ben Ayed I, Elloumi I, Bouzid A, Mosrati MA, Hasnaoui M, Belcadhi M, Idriss N, Kamoun H, Gharbi N, Gibriel AA, Tlili A, Masmoudi S
J Adv Res 2021 Jul;31:13-24. Epub 2021 Jan 12 doi: 10.1016/j.jare.2021.01.005. PMID: 34194829Free PMC Article
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
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
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
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

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

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
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
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

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
Bademci G, Lachgar-Ruiz M, Deokar M, Zafeer MF, Abad C, Yildirim Baylan M, Ingham NJ, Chen J, Sineni CJ, Vadgama N, Karakikes I, Guo S, Duman D, Singh N, Harlalka G, Jain SP, Chioza BA, Walz K, Steel KP, Nasir J, Tekin M
Proc Natl Acad Sci U S A 2022 Jun 28;119(26):e2204084119. Epub 2022 Jun 21 doi: 10.1073/pnas.2204084119. PMID: 35727972Free PMC Article
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
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
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

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