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Autosomal recessive nonsyndromic hearing loss 21(DFNB21)

MedGen UID:
355030
Concept ID:
C1863655
Disease or Syndrome
Synonyms: Deafness, autosomal recessive 21; DFNB21 Nonsyndromic Hearing Loss and Deafness
 
Gene (location): TECTA (11q23.3)
 
Monarch Initiative: MONDO:0011351
OMIM®: 603629

Definition

Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the TECTA 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.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  

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
Tropitzsch A, Schade-Mann T, Gamerdinger P, Dofek S, Schulte B, Schulze M, Battke F, Fehr S, Biskup S, Heyd A, Müller M, Löwenheim H, Vona B, Holderried M
Ear Hear 2022 May/Jun;43(3):1049-1066. doi: 10.1097/AUD.0000000000001159. PMID: 34753855Free PMC Article
Na G, Choi HJ, Joo SY, Rim JH, Kim JA, Kim HY, Yu S, Jeong Y, Shin GC, Noh HE, Lee HY, Kim DH, Gee HY, Jung J, Choi JY
Hear Res 2021 May;404:108227. Epub 2021 Mar 19 doi: 10.1016/j.heares.2021.108227. PMID: 33784549
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
Liu X, Xu L
Ann Otol Rhinol Laryngol 1994 Jun;103(6):428-33. doi: 10.1177/000348949410300602. PMID: 8203808

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
Tropitzsch A, Schade-Mann T, Gamerdinger P, Dofek S, Schulte B, Schulze M, Battke F, Fehr S, Biskup S, Heyd A, Müller M, Löwenheim H, Vona B, Holderried M
Ear Hear 2022 May/Jun;43(3):1049-1066. doi: 10.1097/AUD.0000000000001159. PMID: 34753855Free PMC Article
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
Tlili A, Al Mutery A, Kamal Eddine Ahmad Mohamed W, Mahfood M, Hadj Kacem H
Genet Test Mol Biomarkers 2017 Nov;21(11):686-691. Epub 2017 Oct 10 doi: 10.1089/gtmb.2017.0130. PMID: 29016196
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

Prognosis

Lim HD, Lee SM, Yun YJ, Lee DH, Lee JH, Oh SH, Lee SY
BMC Med Genomics 2023 Apr 11;16(1):79. doi: 10.1186/s12920-023-01506-x. PMID: 37041640Free PMC Article
Khatami S, Askari M, Bahreini F, Hashemzadeh-Chaleshtori M, Hematian S, Asgharzade S
BMC Med Genet 2020 Nov 18;21(1):226. doi: 10.1186/s12881-020-01168-x. PMID: 33208113Free PMC Article
Yasunaga S, Petit C
Genomics 2000 May 15;66(1):110-2. doi: 10.1006/geno.2000.6185. PMID: 10843812
Bonné-Tamir B, DeStefano AL, Briggs CE, Adair R, Franklyn B, Weiss S, Korostishevsky M, Frydman M, Baldwin CT, Farrer LA
Am J Hum Genet 1996 Jun;58(6):1254-9. PMID: 8651303Free PMC Article

Clinical prediction guides

Lim HD, Lee SM, Yun YJ, Lee DH, Lee JH, Oh SH, Lee SY
BMC Med Genomics 2023 Apr 11;16(1):79. doi: 10.1186/s12920-023-01506-x. PMID: 37041640Free PMC Article
Khatami S, Askari M, Bahreini F, Hashemzadeh-Chaleshtori M, Hematian S, Asgharzade S
BMC Med Genet 2020 Nov 18;21(1):226. doi: 10.1186/s12881-020-01168-x. PMID: 33208113Free PMC Article
Asgharzade S, Tabatabaiefar MA, Modarressi MH, Ghahremani MH, Reiisi S, Tahmasebi P, Abdollahnejad F, Chaleshtori MH
Int J Pediatr Otorhinolaryngol 2017 Jan;92:88-93. Epub 2016 Nov 15 doi: 10.1016/j.ijporl.2016.11.010. PMID: 28012541
Mohseni M, Honarpour A, Mozafari R, Davarnia B, Najmabadi H, Kahrizi K
Int J Pediatr Otorhinolaryngol 2014 Nov;78(11):1828-32. Epub 2014 Sep 1 doi: 10.1016/j.ijporl.2014.08.035. PMID: 25239229
Ben Saïd M, Hmani-Aifa M, Amar I, Baig SM, Mustapha M, Delmaghani S, Tlili A, Ghorbel A, Ayadi H, Van Camp G, Smith RJ, Tekin M, Masmoudi S
Genet Test Mol Biomarkers 2010 Jun;14(3):307-11. doi: 10.1089/gtmb.2009.0174. PMID: 20373850Free PMC Article

Recent systematic reviews

Lim HD, Lee SM, Yun YJ, Lee DH, Lee JH, Oh SH, Lee SY
BMC Med Genomics 2023 Apr 11;16(1):79. doi: 10.1186/s12920-023-01506-x. PMID: 37041640Free PMC Article

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