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Hearing loss, autosomal recessive 94(DFNB94)

MedGen UID:
1679077
Concept ID:
C5193096
Disease or Syndrome
Synonym: Deafness, autosomal recessive 94
 
Gene (location): NARS2 (11q14.1)
 
Monarch Initiative: MONDO:0032749
OMIM®: 618434

Definition

DFNB94 is characterized by prelingual profound sensorineural hearing loss (Simon et al., 2015). [from OMIM]

Clinical features

From HPO
Bilateral sensorineural hearing impairment
MedGen UID:
96788
Concept ID:
C0452138
Disease or Syndrome
A bilateral form of sensorineural hearing impairment.
Abnormal vestibular function
MedGen UID:
334848
Concept ID:
C1843865
Finding
An abnormality of the functioning of the vestibular apparatus.

Recent clinical studies

Etiology

Wang R, Zhuang BX, Guo W, Li J, Lin C, Yang S
Acta Otolaryngol 2024 Jan;144(1):39-43. Epub 2024 Jan 30 doi: 10.1080/00016489.2024.2308014. PMID: 38289678
Leal B, Lopes AC, Peixoto D, Correia L, Almiro MM, Vilar J, Azevedo ML, Bicho MA
Acta Med Port 2023 May 2;36(5):336-342. Epub 2023 Feb 17 doi: 10.20344/amp.18607. PMID: 36799720
Duncan JL, Liang W, Maguire MG, Audo I, Ayala AR, Birch DG, Carroll J, Cheetham JK, Esposti SD, Durham TA, Erker L, Farsiu S, Ferris FL 3rd, Heon E, Hufnagel RB, Iannaccone A, Jaffe GJ, Kay CN, Michaelides M, Pennesi ME, Sahel JA; Foundation Fighting Blindness Consortium Investigator Group
Am J Ophthalmol 2020 Nov;219:87-100. Epub 2020 May 22 doi: 10.1016/j.ajo.2020.05.024. PMID: 32446738Free PMC Article
Jung J, Suh MJ, Kim SH
Laryngoscope 2017 Apr;127(4):921-926. Epub 2016 Jul 4 doi: 10.1002/lary.26122. PMID: 27374754
Lu YJ, Yao J, Wei QJ, Xing GQ, Cao X
Medicine (Baltimore) 2015 Dec;94(50):e2248. doi: 10.1097/MD.0000000000002248. PMID: 26683941Free PMC Article

Diagnosis

Leal B, Lopes AC, Peixoto D, Correia L, Almiro MM, Vilar J, Azevedo ML, Bicho MA
Acta Med Port 2023 May 2;36(5):336-342. Epub 2023 Feb 17 doi: 10.20344/amp.18607. PMID: 36799720
de Muijnck C, Brink JBT, Bergen AA, Boon CJF, van Genderen MM
Surv Ophthalmol 2023 Jul-Aug;68(4):641-654. Epub 2023 Feb 9 doi: 10.1016/j.survophthal.2023.01.012. PMID: 36764396
Richard EM, Santos-Cortez RLP, Faridi R, Rehman AU, Lee K, Shahzad M, Acharya A, Khan AA, Imtiaz A, Chakchouk I, Takla C, Abbe I, Rafeeq M, Liaqat K, Chaudhry T, Bamshad MJ, Nickerson DA; University of Washington Center for Mendelian Genomics, Schrauwen I, Khan SN, Morell RJ, Zafar S, Ansar M, Ahmed ZM, Ahmad W, Riazuddin S, Friedman TB, Leal SM, Riazuddin S
Hum Mutat 2019 Jan;40(1):53-72. Epub 2018 Nov 18 doi: 10.1002/humu.23666. PMID: 30303587Free PMC Article
Jung J, Suh MJ, Kim SH
Laryngoscope 2017 Apr;127(4):921-926. Epub 2016 Jul 4 doi: 10.1002/lary.26122. PMID: 27374754
Reardon W, Coffey R, Phelps PD, Luxon LM, Stephens D, Kendall-Taylor P, Britton KE, Grossman A, Trembath R
QJM 1997 Jul;90(7):443-7. doi: 10.1093/qjmed/90.7.443. PMID: 9302427

Therapy

Lu YJ, Yao J, Wei QJ, Xing GQ, Cao X
Medicine (Baltimore) 2015 Dec;94(50):e2248. doi: 10.1097/MD.0000000000002248. PMID: 26683941Free PMC Article

Prognosis

Kabahuma RI, Schubert WD, Labuschagne C, Yan D, Blanton SH, Pepper MS, Liu XZ
Genes (Basel) 2021 Feb 15;12(2) doi: 10.3390/genes12020274. PMID: 33671976Free PMC Article
Tamplen M, Schwalje A, Lustig L, Alemi AS, Miller ME
Laryngoscope 2016 Jun;126(6):1440-5. Epub 2015 Sep 11 doi: 10.1002/lary.25659. PMID: 26360798
Lu YJ, Yao J, Wei QJ, Xing GQ, Cao X
Medicine (Baltimore) 2015 Dec;94(50):e2248. doi: 10.1097/MD.0000000000002248. PMID: 26683941Free PMC Article
Vona B, Hofrichter MA, Neuner C, Schröder J, Gehrig A, Hennermann JB, Kraus F, Shehata-Dieler W, Klopocki E, Nanda I, Haaf T
Clin Genet 2015;87(1):49-55. Epub 2014 Jan 21 doi: 10.1111/cge.12332. PMID: 26011646Free PMC Article
Marshall BA, Permutt MA, Paciorkowski AR, Hoekel J, Karzon R, Wasson J, Viehover A, White NH, Shimony JS, Manwaring L, Austin P, Hullar TE, Hershey T; Washington University Wolfram Study Group
Orphanet J Rare Dis 2013 Apr 27;8:64. doi: 10.1186/1750-1172-8-64. PMID: 23981289Free 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
Kabahuma RI, Schubert WD, Labuschagne C, Yan D, Blanton SH, Pepper MS, Liu XZ
Genes (Basel) 2021 Feb 15;12(2) doi: 10.3390/genes12020274. PMID: 33671976Free PMC Article
Tamplen M, Schwalje A, Lustig L, Alemi AS, Miller ME
Laryngoscope 2016 Jun;126(6):1440-5. Epub 2015 Sep 11 doi: 10.1002/lary.25659. PMID: 26360798
Lu YJ, Yao J, Wei QJ, Xing GQ, Cao X
Medicine (Baltimore) 2015 Dec;94(50):e2248. doi: 10.1097/MD.0000000000002248. PMID: 26683941Free PMC Article
Vona B, Hofrichter MA, Neuner C, Schröder J, Gehrig A, Hennermann JB, Kraus F, Shehata-Dieler W, Klopocki E, Nanda I, Haaf T
Clin Genet 2015;87(1):49-55. Epub 2014 Jan 21 doi: 10.1111/cge.12332. PMID: 26011646Free PMC Article

Recent systematic reviews

de Muijnck C, Brink JBT, Bergen AA, Boon CJF, van Genderen MM
Surv Ophthalmol 2023 Jul-Aug;68(4):641-654. Epub 2023 Feb 9 doi: 10.1016/j.survophthal.2023.01.012. PMID: 36764396
Acke FR, Dhooge IJ, Malfait F, De Leenheer EM
Orphanet J Rare Dis 2012 Oct 30;7:84. doi: 10.1186/1750-1172-7-84. PMID: 23110709Free PMC Article

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