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Autosomal recessive nonsyndromic hearing loss 29(DFNB29)

MedGen UID:
481290
Concept ID:
C3279660
Disease or Syndrome
Synonyms: Deafness, autosomal recessive 29; DFNB29 Nonsyndromic Hearing Loss and Deafness
 
Gene (location): CLDN14 (21q22.13)
 
Monarch Initiative: MONDO:0013537
OMIM®: 614035

Definition

Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the CLDN14 gene. [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  

Recent clinical studies

Etiology

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
Xiao ZA, Xie DH
Chin Med J (Engl) 2004 Dec;117(12):1797-801. PMID: 15603707

Diagnosis

El Fizazi K, Abbassi M, Nmer S, Laamarti H, ElAlami MN, Ouldim K, Bouguenouch L, Ridal M
Audiol Neurootol 2024;29(3):216-223. Epub 2024 Jan 22 doi: 10.1159/000535346. PMID: 38253033
Hirsch Y, Tangshewinsirikul C, Booth KT, Azaiez H, Yefet D, Quint A, Weiden T, Brownstein Z, Macarov M, Davidov B, Pappas J, Rabin R, Kenna MA, Oza AM, Lafferty K, Amr SS, Rehm HL, Kolbe DL, Frees K, Nishimura C, Luo M, Farra C, Morton CC, Scher SY, Ekstein J, Avraham KB, Smith RJH, Shen J
Eur J Hum Genet 2021 Jun;29(6):988-997. Epub 2021 Jan 4 doi: 10.1038/s41431-020-00790-w. PMID: 33398081Free PMC Article
Atik T, Onay H, Aykut A, Bademci G, Kirazli T, Tekin M, Ozkinay F
PLoS One 2015;10(11):e0142154. Epub 2015 Nov 11 doi: 10.1371/journal.pone.0142154. PMID: 26561413Free PMC Article
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

Prognosis

Aller E, Jaijo T, van Wijk E, Ebermann I, Kersten F, García-García G, Voesenek K, Aparisi MJ, Hoefsloot L, Cremers C, Díaz-Llopis M, Pennings R, Bolz HJ, Kremer H, Millán JM
Mol Vis 2010 Mar 23;16:495-500. PMID: 20352026Free PMC Article

Clinical prediction guides

Aller E, Jaijo T, van Wijk E, Ebermann I, Kersten F, García-García G, Voesenek K, Aparisi MJ, Hoefsloot L, Cremers C, Díaz-Llopis M, Pennings R, Bolz HJ, Kremer H, Millán JM
Mol Vis 2010 Mar 23;16:495-500. PMID: 20352026Free PMC Article

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