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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.
See: Feature record | Search on this feature
Abnormal vestibular function
MedGen UID:
334848
•Concept ID:
C1843865
•
Finding
An abnormality of the functioning of the vestibular apparatus.
See: Feature record | Search on this feature

Recent clinical studies

Etiology

Parental Consanguinity and Risk for Childhood Hearing Loss: A Retrospective Cohort Study.
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
Deep analysis of the LRTOMTc.242G>A variant in non-syndromic hearing loss North African patients and the Berber population: Implications for genetic diagnosis and genealogical studies.
Mosrati MA, Fadhlaoui-Zid K, Benammar-Elgaaied A, Gibriel AA, Ben Said M, Masmoudi S
Mol Genet Genomic Med 2021 Oct;9(10):e1810. Epub 2021 Sep 13 doi: 10.1002/mgg3.1810. PMID: 34514748Free PMC Article
Audiometric findings in children with unilateral enlarged vestibular aqueduct.
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
Diagnostic Value of SLC26A4 Mutation Status in Hereditary Hearing Loss With EVA: A PRISMA-Compliant Meta-Analysis.
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
Connexin 26 and 30 mutations in paediatric patients with congenital, non-syndromic hearing loss treated with cochlear implantation in Mediterranean Turkey.
Tarkan Ö, Sari P, Demirhan O, Kiroğlu M, Tuncer Ü, Sürmelioğlu Ö, Ozdemir S, Yilmaz MB, Kara K
J Laryngol Otol 2013 Jan;127(1):33-7. Epub 2012 Nov 22 doi: 10.1017/S0022215112002587. PMID: 23171692

Diagnosis

Parental Consanguinity and Risk for Childhood Hearing Loss: A Retrospective Cohort Study.
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
Delineating Wolfram-like syndrome: A systematic review and discussion of the WFS1-associated disease spectrum.
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
The natural history of OTOF-related auditory neuropathy spectrum disorders: a multicenter study.
Thorpe RK, Azaiez H, Wu P, Wang Q, Xu L, Dai P, Yang T, Schaefer GB, Peters BR, Chan KH, Schatz KS, Bodurtha J, Robin NH, Hirsch Y, Rahbeeni ZA, Yuan H, Smith RJH
Hum Genet 2022 Apr;141(3-4):853-863. Epub 2021 Aug 23 doi: 10.1007/s00439-021-02340-w. PMID: 34424407Free PMC Article
Deep analysis of the LRTOMTc.242G>A variant in non-syndromic hearing loss North African patients and the Berber population: Implications for genetic diagnosis and genealogical studies.
Mosrati MA, Fadhlaoui-Zid K, Benammar-Elgaaied A, Gibriel AA, Ben Said M, Masmoudi S
Mol Genet Genomic Med 2021 Oct;9(10):e1810. Epub 2021 Sep 13 doi: 10.1002/mgg3.1810. PMID: 34514748Free PMC Article
Global genetic insight contributed by consanguineous Pakistani families segregating hearing loss.
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

Therapy

Diagnostic Value of SLC26A4 Mutation Status in Hereditary Hearing Loss With EVA: A PRISMA-Compliant Meta-Analysis.
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

Spectrum of MYO7A Mutations in an Indigenous South African Population Further Elucidates the Nonsyndromic Autosomal Recessive Phenotype of DFNB2 to Include Both Homozygous and Compound Heterozygous Mutations.
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
Diagnostic Value of SLC26A4 Mutation Status in Hereditary Hearing Loss With EVA: A PRISMA-Compliant Meta-Analysis.
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
DFNB16 is a frequent cause of congenital hearing impairment: implementation of STRC mutation analysis in routine diagnostics.
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
Phenotypic characteristics of early Wolfram syndrome.
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
Cochlear implantation in Donnai-Barrow syndrome.
Bruce IA, Broomfield SJ, Henderson L, Green KM, Ramsden RT
Cochlear Implants Int 2011 Feb;12(1):60-3. doi: 10.1179/146701010X486534. PMID: 21756462

Clinical prediction guides

Long-term clinical evaluation of patients with alpha-mannosidosis - A multicenter study.
Köse E, Kasapkara ÇS, İnci A, Yıldız Y, Sürücü Kara İ, Kahraman AB, Tümer L, Dursun A, Eminoğlu FT
Eur J Med Genet 2024 Apr;68:104927. Epub 2024 Feb 19 doi: 10.1016/j.ejmg.2024.104927. PMID: 38382588
Elucidation of repeat motifs R1- and R2-related TRIOBP variants in autosomal recessive nonsyndromic hearing loss DFNB28 among indigenous South African individuals.
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
Spectrum of MYO7A Mutations in an Indigenous South African Population Further Elucidates the Nonsyndromic Autosomal Recessive Phenotype of DFNB2 to Include Both Homozygous and Compound Heterozygous Mutations.
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
Diagnostic Value of SLC26A4 Mutation Status in Hereditary Hearing Loss With EVA: A PRISMA-Compliant Meta-Analysis.
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
Cochlear implantation in Donnai-Barrow syndrome.
Bruce IA, Broomfield SJ, Henderson L, Green KM, Ramsden RT
Cochlear Implants Int 2011 Feb;12(1):60-3. doi: 10.1179/146701010X486534. PMID: 21756462

Recent systematic reviews

Delineating Wolfram-like syndrome: A systematic review and discussion of the WFS1-associated disease spectrum.
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
Hearing impairment in Stickler syndrome: a systematic review.
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

Supplemental Content

Table of contents

    Clinical resources

    Reviews

    Related information

    • ClinVar
      Related medical variations
    • Gene
      Related information in NCBI Gene
    • GTR
      Related information in GTR
    • GTR(Clinical)
      Clinical tests in GTR
    • OMIM
      Related records in OMIM
    • OMIM(Genes)
      OMIM records containing genes associated with phenotypes registered in MedGen
    • PMC Articles
      Related information in PubMed Central Links
    • PubMed
      Related literature resources in PubMed

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