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Hearing loss, autosomal recessive 120(DFNB120)

MedGen UID:
1824082
Concept ID:
C5774309
Disease or Syndrome
Synonym: Deafness, autosomal recessive 120
 
Gene (location): MINAR2 (5q23.3)
 
Monarch Initiative: MONDO:0859374
OMIM®: 620238

Definition

Autosomal recessive deafness-120 (DFNB120) is characterized by congenital or prelingual onset of severe to profound sensorineural hearing loss (Bademci et al., 2022). [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.

Professional guidelines

PubMed

Thomas LA, Lewis S, Massie J, Kirk EP, Archibald AD, Barlow-Stewart K, Boardman FK, Halliday J, McClaren B, Delatycki MB
Eur J Med Genet 2020 Dec;63(12):104075. Epub 2020 Sep 30 doi: 10.1016/j.ejmg.2020.104075. PMID: 33007447

Recent clinical studies

Etiology

Farrokhian N, Kocharyan A, Ruthberg J, Piper R, Rivas A, Semaan M, Otteson T, Manzoor NF
Laryngoscope 2022 Jul;132(7):1439-1445. Epub 2021 Nov 18 doi: 10.1002/lary.29936. PMID: 34792801
Thomas LA, Lewis S, Massie J, Kirk EP, Archibald AD, Barlow-Stewart K, Boardman FK, Halliday J, McClaren B, Delatycki MB
Eur J Med Genet 2020 Dec;63(12):104075. Epub 2020 Sep 30 doi: 10.1016/j.ejmg.2020.104075. PMID: 33007447
Macielak RJ, Mattingly JK, Findlen UM, Moberly AC, Malhotra PS, Adunka OF
Int J Pediatr Otorhinolaryngol 2019 May;120:25-29. Epub 2019 Jan 25 doi: 10.1016/j.ijporl.2019.01.034. PMID: 30753978
Clarós P, Fokouo JV, Clarós A
Cochlear Implants Int 2017 May;18(3):125-129. Epub 2017 Jan 25 doi: 10.1080/14670100.2016.1268754. PMID: 28120638
Ozantürk A, Marshall JD, Collin GB, Düzenli S, Marshall RP, Candan Ş, Tos T, Esen İ, Taşkesen M, Çayır A, Öztürk Ş, Üstün İ, Ataman E, Karaca E, Özdemir TR, Erol İ, Eroğlu FK, Torun D, Parıltay E, Yılmaz-Güleç E, Karaca E, Atabek ME, Elçioğlu N, Satman İ, Möller C, Muller J, Naggert JK, Özgül RK
J Hum Genet 2015 Jan;60(1):1-9. Epub 2014 Oct 9 doi: 10.1038/jhg.2014.85. PMID: 25296579Free PMC Article

Diagnosis

Dia Y, Loum B, Dieng YJKB, Diop JPD, Adadey SM, Aboagye ET, Ba SA, Touré AA, Niang F, Diaga Sarr P, Tidiane Ly CA, Sène ARG, Kock C, Bassier R, Popel K, Ndiaye Diallo R, Wonkam A, Diallo BK
Genes (Basel) 2023 Feb 23;14(3) doi: 10.3390/genes14030562. PMID: 36980833Free PMC Article
Farrokhian N, Kocharyan A, Ruthberg J, Piper R, Rivas A, Semaan M, Otteson T, Manzoor NF
Laryngoscope 2022 Jul;132(7):1439-1445. Epub 2021 Nov 18 doi: 10.1002/lary.29936. PMID: 34792801
Macielak RJ, Mattingly JK, Findlen UM, Moberly AC, Malhotra PS, Adunka OF
Int J Pediatr Otorhinolaryngol 2019 May;120:25-29. Epub 2019 Jan 25 doi: 10.1016/j.ijporl.2019.01.034. PMID: 30753978
Santos-Cortez RL, Faridi R, Rehman AU, Lee K, Ansar M, Wang X, Morell RJ, Isaacson R, Belyantseva IA, Dai H, Acharya A, Qaiser TA, Muhammad D, Ali RA, Shams S, Hassan MJ, Shahzad S, Raza SI, Bashir ZE, Smith JD, Nickerson DA, Bamshad MJ; University of Washington Center for Mendelian Genomics, Riazuddin S, Ahmad W, Friedman TB, Leal SM
Am J Hum Genet 2016 Feb 4;98(2):331-8. Epub 2016 Jan 21 doi: 10.1016/j.ajhg.2015.12.004. PMID: 26805784Free PMC Article
Finsterer J, Fellinger J
Int J Pediatr Otorhinolaryngol 2005 May;69(5):621-47. doi: 10.1016/j.ijporl.2004.12.002. PMID: 15850684

Prognosis

Liang L, Wu H, Cai Z, Zhao J
BMC Med Genomics 2023 Aug 18;16(1):192. doi: 10.1186/s12920-023-01623-7. PMID: 37596645Free PMC Article
Farrokhian N, Kocharyan A, Ruthberg J, Piper R, Rivas A, Semaan M, Otteson T, Manzoor NF
Laryngoscope 2022 Jul;132(7):1439-1445. Epub 2021 Nov 18 doi: 10.1002/lary.29936. PMID: 34792801
Clarós P, Fokouo JV, Clarós A
Cochlear Implants Int 2017 May;18(3):125-129. Epub 2017 Jan 25 doi: 10.1080/14670100.2016.1268754. PMID: 28120638
Lee J, Jung SC, Hong YB, Yoo JH, Koo H, Lee JH, Hong HD, Kim SB, Chung KW, Choi BO
Mol Med Rep 2016 Jul;14(1):33-40. Epub 2016 May 4 doi: 10.3892/mmr.2016.5209. PMID: 27150940Free PMC Article
Santos-Cortez RL, Faridi R, Rehman AU, Lee K, Ansar M, Wang X, Morell RJ, Isaacson R, Belyantseva IA, Dai H, Acharya A, Qaiser TA, Muhammad D, Ali RA, Shams S, Hassan MJ, Shahzad S, Raza SI, Bashir ZE, Smith JD, Nickerson DA, Bamshad MJ; University of Washington Center for Mendelian Genomics, Riazuddin S, Ahmad W, Friedman TB, Leal SM
Am J Hum Genet 2016 Feb 4;98(2):331-8. Epub 2016 Jan 21 doi: 10.1016/j.ajhg.2015.12.004. PMID: 26805784Free PMC Article

Clinical prediction guides

Liang L, Wu H, Cai Z, Zhao J
BMC Med Genomics 2023 Aug 18;16(1):192. doi: 10.1186/s12920-023-01623-7. PMID: 37596645Free PMC Article
Dia Y, Loum B, Dieng YJKB, Diop JPD, Adadey SM, Aboagye ET, Ba SA, Touré AA, Niang F, Diaga Sarr P, Tidiane Ly CA, Sène ARG, Kock C, Bassier R, Popel K, Ndiaye Diallo R, Wonkam A, Diallo BK
Genes (Basel) 2023 Feb 23;14(3) doi: 10.3390/genes14030562. PMID: 36980833Free PMC Article
Farrokhian N, Kocharyan A, Ruthberg J, Piper R, Rivas A, Semaan M, Otteson T, Manzoor NF
Laryngoscope 2022 Jul;132(7):1439-1445. Epub 2021 Nov 18 doi: 10.1002/lary.29936. PMID: 34792801
Clarós P, Fokouo JV, Clarós A
Cochlear Implants Int 2017 May;18(3):125-129. Epub 2017 Jan 25 doi: 10.1080/14670100.2016.1268754. PMID: 28120638
Santos-Cortez RL, Faridi R, Rehman AU, Lee K, Ansar M, Wang X, Morell RJ, Isaacson R, Belyantseva IA, Dai H, Acharya A, Qaiser TA, Muhammad D, Ali RA, Shams S, Hassan MJ, Shahzad S, Raza SI, Bashir ZE, Smith JD, Nickerson DA, Bamshad MJ; University of Washington Center for Mendelian Genomics, Riazuddin S, Ahmad W, Friedman TB, Leal SM
Am J Hum Genet 2016 Feb 4;98(2):331-8. Epub 2016 Jan 21 doi: 10.1016/j.ajhg.2015.12.004. PMID: 26805784Free PMC Article

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