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Hearing loss, autosomal recessive 99(DFNB99)

MedGen UID:
1678930
•Concept ID:
C4760579
•
Disease or Syndrome
Synonym: Deafness, autosomal recessive 99
 
Gene (location): TMEM132E (17q12)
 
Monarch Initiative: MONDO:0032776
OMIM®: 618481

Definition

DFNB99 is characterized by prelingual, severe to profound sensorineural hearing loss without vestibular dysfunction (Cheng et al., 2003). [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.
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

Professional guidelines

PubMed

The Next Generation of Population-Based DFNB16 Carrier Screening and Diagnosis: STRC Copy-Number Variant Analysis from Genome Sequencing Data.
Xiang J, Peng J, Sun X, Lin Z, Li D, Ye H, Wang S, Bai Y, Wang X, Du P, Gao Y, Sun J, Pan S, Peng Z
Clin Chem 2023 Jul 5;69(7):763-770. doi: 10.1093/clinchem/hvad046. PMID: 37207672
Newborn Hearing Screening Results in Patients with Enlarged Vestibular Aqueduct.
Perry J, Sher E, Kawai K, Redfield S, Sun T, Kenna M
Laryngoscope 2023 Oct;133(10):2786-2791. Epub 2023 Feb 10 doi: 10.1002/lary.30605. PMID: 36762450

Recent clinical studies

Etiology

Newborn Hearing Screening Results in Patients with Enlarged Vestibular Aqueduct.
Perry J, Sher E, Kawai K, Redfield S, Sun T, Kenna M
Laryngoscope 2023 Oct;133(10):2786-2791. Epub 2023 Feb 10 doi: 10.1002/lary.30605. PMID: 36762450
Molecular Epidemiology in 591 Italian Probands With Nonsyndromic Retinitis Pigmentosa and Usher Syndrome.
Colombo L, Maltese PE, Castori M, El Shamieh S, Zeitz C, Audo I, Zulian A, Marinelli C, Benedetti S, Costantini A, Bressan S, Percio M, Ferri P, Abeshi A, Bertelli M, Rossetti L
Invest Ophthalmol Vis Sci 2021 Feb 1;62(2):13. doi: 10.1167/iovs.62.2.13. PMID: 33576794Free PMC Article
Hearing Loss in Enlarged Vestibular Aqueduct: A Prognostic Factor Systematic Review of the Literature.
Saeed HS, Kenth J, Black G, Saeed SR, Stivaros S, Bruce IA
Otol Neurotol 2021 Jan;42(1):99-107. doi: 10.1097/MAO.0000000000002843. PMID: 33026783
Enlarged cochlear aqueducts: a potential route for CSF gushers in patients with enlarged vestibular aqueducts.
Kim BG, Sim NS, Kim SH, Kim UK, Kim S, Choi JY
Otol Neurotol 2013 Dec;34(9):1660-5. doi: 10.1097/MAO.0b013e3182a036e4. PMID: 24232063
Wolfram syndrome in French population: characterization of novel mutations and polymorphisms in the WFS1 gene.
Giuliano F, Bannwarth S, Monnot S, Cano A, Chabrol B, Vialettes B, Delobel B, Paquis-Flucklinger V; French Group of WS
Hum Mutat 2005 Jan;25(1):99-100. doi: 10.1002/humu.9300. PMID: 15605410

Diagnosis

The Next Generation of Population-Based DFNB16 Carrier Screening and Diagnosis: STRC Copy-Number Variant Analysis from Genome Sequencing Data.
Xiang J, Peng J, Sun X, Lin Z, Li D, Ye H, Wang S, Bai Y, Wang X, Du P, Gao Y, Sun J, Pan S, Peng Z
Clin Chem 2023 Jul 5;69(7):763-770. doi: 10.1093/clinchem/hvad046. PMID: 37207672
Molecular Epidemiology in 591 Italian Probands With Nonsyndromic Retinitis Pigmentosa and Usher Syndrome.
Colombo L, Maltese PE, Castori M, El Shamieh S, Zeitz C, Audo I, Zulian A, Marinelli C, Benedetti S, Costantini A, Bressan S, Percio M, Ferri P, Abeshi A, Bertelli M, Rossetti L
Invest Ophthalmol Vis Sci 2021 Feb 1;62(2):13. doi: 10.1167/iovs.62.2.13. PMID: 33576794Free PMC Article
Hearing Loss in Enlarged Vestibular Aqueduct: A Prognostic Factor Systematic Review of the Literature.
Saeed HS, Kenth J, Black G, Saeed SR, Stivaros S, Bruce IA
Otol Neurotol 2021 Jan;42(1):99-107. doi: 10.1097/MAO.0000000000002843. PMID: 33026783
Comprehensive genomic diagnosis of non-syndromic and syndromic hereditary hearing loss in Spanish patients.
Cabanillas R, Diñeiro M, Cifuentes GA, Castillo D, Pruneda PC, Álvarez R, Sánchez-Durán N, Capín R, Plasencia A, Viejo-Díaz M, García-González N, Hernando I, Llorente JL, Repáraz-Andrade A, Torreira-Banzas C, Rosell J, Govea N, Gómez-Martínez JR, Núñez-Batalla F, Garrote JA, Mazón-Gutiérrez Á, Costales M, Isidoro-García M, García-Berrocal B, Ordóñez GR, Cadiñanos J
BMC Med Genomics 2018 Jul 9;11(1):58. doi: 10.1186/s12920-018-0375-5. PMID: 29986705Free 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

Therapy

A phase I/IIa double blind single institute trial of low dose sirolimus for Pendred syndrome/DFNB4.
Fujioka M, Akiyama T, Hosoya M, Kikuchi K, Fujiki Y, Saito Y, Yoshihama K, Ozawa H, Tsukada K, Nishio SY, Usami SI, Matsunaga T, Hasegawa T, Sato Y, Ogawa K
Medicine (Baltimore) 2020 May;99(19):e19763. doi: 10.1097/MD.0000000000019763. PMID: 32384426Free PMC Article
The prevalence of deafness-associated mutations in neonates: A meta-analysis of clinical trials.
Chen S, Liang Z, Chen B, Yao F, Huang G, Zhu J, Li Y, Gao S, Zhao Q
Int J Pediatr Otorhinolaryngol 2019 Jun;121:99-108. Epub 2019 Mar 8 doi: 10.1016/j.ijporl.2019.01.012. PMID: 30878560
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

Newborn Hearing Screening Results in Patients with Enlarged Vestibular Aqueduct.
Perry J, Sher E, Kawai K, Redfield S, Sun T, Kenna M
Laryngoscope 2023 Oct;133(10):2786-2791. Epub 2023 Feb 10 doi: 10.1002/lary.30605. PMID: 36762450
Molecular Epidemiology in 591 Italian Probands With Nonsyndromic Retinitis Pigmentosa and Usher Syndrome.
Colombo L, Maltese PE, Castori M, El Shamieh S, Zeitz C, Audo I, Zulian A, Marinelli C, Benedetti S, Costantini A, Bressan S, Percio M, Ferri P, Abeshi A, Bertelli M, Rossetti L
Invest Ophthalmol Vis Sci 2021 Feb 1;62(2):13. doi: 10.1167/iovs.62.2.13. PMID: 33576794Free PMC Article
Hearing Loss in Enlarged Vestibular Aqueduct: A Prognostic Factor Systematic Review of the Literature.
Saeed HS, Kenth J, Black G, Saeed SR, Stivaros S, Bruce IA
Otol Neurotol 2021 Jan;42(1):99-107. doi: 10.1097/MAO.0000000000002843. PMID: 33026783
Comprehensive genomic diagnosis of non-syndromic and syndromic hereditary hearing loss in Spanish patients.
Cabanillas R, Diñeiro M, Cifuentes GA, Castillo D, Pruneda PC, Álvarez R, Sánchez-Durán N, Capín R, Plasencia A, Viejo-Díaz M, García-González N, Hernando I, Llorente JL, Repáraz-Andrade A, Torreira-Banzas C, Rosell J, Govea N, Gómez-Martínez JR, Núñez-Batalla F, Garrote JA, Mazón-Gutiérrez Á, Costales M, Isidoro-García M, García-Berrocal B, Ordóñez GR, Cadiñanos J
BMC Med Genomics 2018 Jul 9;11(1):58. doi: 10.1186/s12920-018-0375-5. PMID: 29986705Free PMC Article
Enlarged cochlear aqueducts: a potential route for CSF gushers in patients with enlarged vestibular aqueducts.
Kim BG, Sim NS, Kim SH, Kim UK, Kim S, Choi JY
Otol Neurotol 2013 Dec;34(9):1660-5. doi: 10.1097/MAO.0b013e3182a036e4. PMID: 24232063

Clinical prediction guides

Hearing Loss in Enlarged Vestibular Aqueduct: A Prognostic Factor Systematic Review of the Literature.
Saeed HS, Kenth J, Black G, Saeed SR, Stivaros S, Bruce IA
Otol Neurotol 2021 Jan;42(1):99-107. doi: 10.1097/MAO.0000000000002843. PMID: 33026783
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
Enlarged cochlear aqueducts: a potential route for CSF gushers in patients with enlarged vestibular aqueducts.
Kim BG, Sim NS, Kim SH, Kim UK, Kim S, Choi JY
Otol Neurotol 2013 Dec;34(9):1660-5. doi: 10.1097/MAO.0b013e3182a036e4. PMID: 24232063
Re-assigning the DFNB33 locus to chromosome 10p11.23-q21.1.
Belguith H, Masmoudi S, Medlej-Hashim M, Chouery E, Weil D, Ayadi H, Petit C, Mégarbané A
Eur J Hum Genet 2009 Jan;17(1):122-4. Epub 2008 Sep 10 doi: 10.1038/ejhg.2008.155. PMID: 18781188Free PMC Article

Recent systematic reviews

Hearing Loss in Enlarged Vestibular Aqueduct: A Prognostic Factor Systematic Review of the Literature.
Saeed HS, Kenth J, Black G, Saeed SR, Stivaros S, Bruce IA
Otol Neurotol 2021 Jan;42(1):99-107. doi: 10.1097/MAO.0000000000002843. PMID: 33026783
The prevalence of deafness-associated mutations in neonates: A meta-analysis of clinical trials.
Chen S, Liang Z, Chen B, Yao F, Huang G, Zhu J, Li Y, Gao S, Zhao Q
Int J Pediatr Otorhinolaryngol 2019 Jun;121:99-108. Epub 2019 Mar 8 doi: 10.1016/j.ijporl.2019.01.012. PMID: 30878560

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      Clinical tests in GTR
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      OMIM records containing genes associated with phenotypes registered in MedGen
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