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Neuropathy with hearing impairment

MedGen UID:
1375726
•Concept ID:
C4509933
•
Disease or Syndrome
Synonyms: neuropathy with hearing impairment; Peripheral neuropathy with sensorineural hearing impairment syndrome
SNOMED CT: Peripheral neuropathy with sensorineural hearing impairment syndrome (723497003); Neuropathy with hearing impairment (723497003)
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
141047
•Concept ID:
C0443147
•
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.
Autosomal dominant inheritance (Orphanet)
 
Monarch Initiative: MONDO:0015351
Orphanet: ORPHA139512

Definition

Syndrome with the association of sensorineural hearing impairment and peripheral neuropathy. It has been described in members from four generations of a Spanish family. The hearing impairment was mild and often asymmetrical. The neuropathy was demyelinating with predominantly sensory involvement but severity was variable ranging from asymptomatic individuals to patients with skin ulcers and osteomyelitis requiring amputation. Caused by mutations in the GJB3 gene (1p34). The syndrome is transmitted in an autosomal dominant manner. [from SNOMEDCT_US]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVNeuropathy with hearing impairment

Professional guidelines

PubMed

The natural history, clinical outcomes, and genotype-phenotype relationship of otoferlin-related hearing loss: a systematic, quantitative literature review.
Ford CL, Riggs WJ, Quigley T, Keifer OP Jr, Whitton JP, Valayannopoulos V
Hum Genet 2023 Oct;142(10):1429-1449. Epub 2023 Sep 7 doi: 10.1007/s00439-023-02595-5. PMID: 37679651Free PMC Article
Auditory neuropathy: from etiology to management.
Huang Y, Yang J, Duan M
Curr Opin Otolaryngol Head Neck Surg 2022 Oct 1;30(5):332-338. Epub 2022 Jul 18 doi: 10.1097/MOO.0000000000000829. PMID: 35939320
Treatment of patients with metastatic urothelial cancer "unfit" for Cisplatin-based chemotherapy.
Galsky MD, Hahn NM, Rosenberg J, Sonpavde G, Hutson T, Oh WK, Dreicer R, Vogelzang N, Sternberg CN, Bajorin DF, Bellmunt J
J Clin Oncol 2011 Jun 10;29(17):2432-8. Epub 2011 May 9 doi: 10.1200/JCO.2011.34.8433. PMID: 21555688

Recent clinical studies

Etiology

SOX10: 20 years of phenotypic plurality and current understanding of its developmental function.
Pingault V, Zerad L, Bertani-Torres W, Bondurand N
J Med Genet 2022 Feb;59(2):105-114. Epub 2021 Oct 19 doi: 10.1136/jmedgenet-2021-108105. PMID: 34667088Free PMC Article
Hidden Hearing Loss: A Disorder with Multiple Etiologies and Mechanisms.
C Kohrman D, Wan G, Cassinotti L, Corfas G
Cold Spring Harb Perspect Med 2020 Jan 2;10(1) doi: 10.1101/cshperspect.a035493. PMID: 30617057Free PMC Article
Cochlear synaptopathy in acquired sensorineural hearing loss: Manifestations and mechanisms.
Liberman MC, Kujawa SG
Hear Res 2017 Jun;349:138-147. Epub 2017 Jan 10 doi: 10.1016/j.heares.2017.01.003. PMID: 28087419Free PMC Article
Otolaryngologic manifestations of systemic vasculitis.
Parra-García GD, Callejas-Rubio JL, Ríos-Fernández R, Sainz-Quevedo M, Ortego-Centeno N
Acta Otorrinolaringol Esp 2012 Jul-Aug;63(4):303-10. Epub 2011 Dec 15 doi: 10.1016/j.otorri.2011.09.002. PMID: 22177421
Neonatal screening for hearing impairment.
Watkin PM
Semin Neonatol 2001 Dec;6(6):501-9. doi: 10.1053/siny.2001.0081. PMID: 12014891

Diagnosis

Bilirubin-Induced Audiologic Injury in Preterm Infants.
Olds C, Oghalai JS
Clin Perinatol 2016 Jun;43(2):313-23. Epub 2016 Feb 15 doi: 10.1016/j.clp.2016.01.006. PMID: 27235210Free PMC Article
Auditory neuropathy--neural and synaptic mechanisms.
Moser T, Starr A
Nat Rev Neurol 2016 Mar;12(3):135-49. Epub 2016 Feb 19 doi: 10.1038/nrneurol.2016.10. PMID: 26891769
Auditory neuropathy.
Starr A, Rance G
Handb Clin Neurol 2015;129:495-508. doi: 10.1016/B978-0-444-62630-1.00028-7. PMID: 25726287
Endolymphatic sac tumors.
Wick CC, Manzoor NF, Semaan MT, Megerian CA
Otolaryngol Clin North Am 2015 Apr;48(2):317-30. Epub 2015 Jan 31 doi: 10.1016/j.otc.2014.12.006. PMID: 25650230
Otolaryngologic manifestations of systemic vasculitis.
Parra-García GD, Callejas-Rubio JL, Ríos-Fernández R, Sainz-Quevedo M, Ortego-Centeno N
Acta Otorrinolaringol Esp 2012 Jul-Aug;63(4):303-10. Epub 2011 Dec 15 doi: 10.1016/j.otorri.2011.09.002. PMID: 22177421

Therapy

Noise-Induced Hearing Loss: Updates on Molecular Targets and Potential Interventions.
Mao H, Chen Y
Neural Plast 2021;2021:4784385. Epub 2021 Jul 6 doi: 10.1155/2021/4784385. PMID: 34306060Free PMC Article
Cochlear Implantation in Neurological Patients: Case Report and Literature Survey.
Barbara M, Margani V, Costanzo R, Salvetti M, Bozzao A, Monini S, Covelli E
Laryngoscope 2021 Feb;131(2):E576-E580. Epub 2020 Apr 27 doi: 10.1002/lary.28704. PMID: 32339291
Acquired auditory neuropathy spectrum disorder after malaria treated with quinine.
Brough H
Trop Doct 2020 Jul;50(3):246-248. Epub 2020 Apr 14 doi: 10.1177/0049475520917236. PMID: 32290759
Cochlear synaptopathy in acquired sensorineural hearing loss: Manifestations and mechanisms.
Liberman MC, Kujawa SG
Hear Res 2017 Jun;349:138-147. Epub 2017 Jan 10 doi: 10.1016/j.heares.2017.01.003. PMID: 28087419Free PMC Article
Peripheral neuropathy with ethambutol.
Tugwell P, James SL
Postgrad Med J 1972 Nov;48(565):667-70. doi: 10.1136/pgmj.48.565.667. PMID: 4346665Free PMC Article

Prognosis

Novel Mutation in AIFM1 Gene Associated with X-Linked Deafness in a Moroccan Family.
Elrharchi S, Riahi Z, Salime S, Charoute H, Elkhattabi L, Boulouiz R, Kabine M, Bonnet C, Petit C, Barakat A
Hum Hered 2020;85(1):35-39. Epub 2021 Jan 22 doi: 10.1159/000512712. PMID: 33486474
Congenital Cholesteatoma of the Sphenoid, Occipital, and Temporal Bones: 54-Year Follow Up.
Maxwell AK, Muelleman T, Brackmann DE
Otol Neurotol 2020 Jun;41(5):e593-e596. doi: 10.1097/MAO.0000000000002601. PMID: 32097365
MEDNIK syndrome with a frame shift causing mutation in AP1S1 gene and literature review of the clinical features.
Incecik F, Bisgin A, Yılmaz M
Metab Brain Dis 2018 Dec;33(6):2065-2068. Epub 2018 Sep 23 doi: 10.1007/s11011-018-0313-4. PMID: 30244301
Two cases of pharyngolaryngeal zoster advanced to multiple cranial neuropathy.
Choi JH
Am J Otolaryngol 2013 Jul-Aug;34(4):369-72. Epub 2013 Feb 8 doi: 10.1016/j.amjoto.2013.01.008. PMID: 23398729
Surgical management of posterior petrous meningiomas.
Liu JK, Gottfried ON, Couldwell WT
Neurosurg Focus 2003 Jun 15;14(6):e7. doi: 10.3171/foc.2003.14.6.7. PMID: 15669792

Clinical prediction guides

SOX10: 20 years of phenotypic plurality and current understanding of its developmental function.
Pingault V, Zerad L, Bertani-Torres W, Bondurand N
J Med Genet 2022 Feb;59(2):105-114. Epub 2021 Oct 19 doi: 10.1136/jmedgenet-2021-108105. PMID: 34667088Free PMC Article
Neurologic examination in the elderly.
Seraji-Bzorgzad N, Paulson H, Heidebrink J
Handb Clin Neurol 2019;167:73-88. doi: 10.1016/B978-0-12-804766-8.00005-4. PMID: 31753158Free PMC Article
c.376G>A mutation in WFS1 gene causes Wolfram syndrome without deafness.
Safarpour Lima B, Ghaedi H, Daftarian N, Ahmadieh H, Jamshidi J, Khorrami M, Noroozi R, Sohrabifar N, Assarzadegan F, Hesami O, Taghavi S, Ahmadifard A, Atakhorrami M, Rahimi-Aliabadi S, Shahmohammadibeni N, Alehabib E, Andarva M, Darvish H, Emamalizadeh B
Eur J Med Genet 2016 Feb;59(2):65-9. Epub 2016 Jan 7 doi: 10.1016/j.ejmg.2016.01.001. PMID: 26773575
Contemporary management of jugular paragangliomas.
Wanna GB, Sweeney AD, Haynes DS, Carlson ML
Otolaryngol Clin North Am 2015 Apr;48(2):331-41. doi: 10.1016/j.otc.2014.12.007. PMID: 25769354
The mitochondrial connection in auditory neuropathy.
Cacace AT, Pinheiro JM
Audiol Neurootol 2011;16(6):398-413. Epub 2011 Jan 22 doi: 10.1159/000323276. PMID: 21266802

Recent systematic reviews

Neuropathy, Ataxia, and Retinitis Pigmentosa Syndrome.
Finsterer J
J Clin Neuromuscul Dis 2023 Mar 1;24(3):140-146. doi: 10.1097/CND.0000000000000422. PMID: 36809201
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
Mitochondrial Disease and Hearing Loss in Children: A Systematic Review.
Roesch S, O'Sullivan A, Zimmermann G, Mair A, Lipuš C, Mayr JA, Wortmann SB, Rasp G
Laryngoscope 2022 Dec;132(12):2459-2472. Epub 2022 Feb 21 doi: 10.1002/lary.30067. PMID: 35188226Free PMC Article
Auditory neuropathy spectrum disorder (ANSD) and cochlear implantation.
Harrison RV, Gordon KA, Papsin BC, Negandhi J, James AL
Int J Pediatr Otorhinolaryngol 2015 Dec;79(12):1980-7. Epub 2015 Oct 17 doi: 10.1016/j.ijporl.2015.10.006. PMID: 26545793
Indications and contraindications of auditory brainstem implants: systematic review and illustrative cases.
Merkus P, Di Lella F, Di Trapani G, Pasanisi E, Beltrame MA, Zanetti D, Negri M, Sanna M
Eur Arch Otorhinolaryngol 2014 Jan;271(1):3-13. Epub 2013 Feb 13 doi: 10.1007/s00405-013-2378-3. PMID: 23404468

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