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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

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
Hearing screening in neonates with hyperbilirubinemia.
Ezzeldin ZM, Sharaf E, Hamdy HS, Abdelwahab Selim YA
Int J Pediatr Otorhinolaryngol 2021 Mar;142:110591. Epub 2020 Dec 23 doi: 10.1016/j.ijporl.2020.110591. PMID: 33360868
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
Hearing Loss and Failed Newborn Hearing Screen.
Dedhia K, Graham E, Park A
Clin Perinatol 2018 Dec;45(4):629-643. Epub 2018 Sep 24 doi: 10.1016/j.clp.2018.07.004. PMID: 30396409
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
Type 2 Diabetes and Hearing Impairment.
Helzner EP, Contrera KJ
Curr Diab Rep 2016 Jan;16(1):3. doi: 10.1007/s11892-015-0696-0. PMID: 26699766

Diagnosis

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
Auditory Neuropathy/Auditory Synaptopathy.
Hood LJ
Otolaryngol Clin North Am 2021 Dec;54(6):1093-1100. Epub 2021 Sep 15 doi: 10.1016/j.otc.2021.07.004. PMID: 34535280
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
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

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
Carbon monoxide poisoning.
Weaver LK
Undersea Hyperb Med 2020 First Quarter;47(1):151-169. doi: 10.22462/01.03.2020.17. PMID: 32176957
Neurologic Complications of Radiation Therapy.
Tanguturi SK, Alexander BM
Neurol Clin 2018 Aug;36(3):599-625. Epub 2018 Jun 15 doi: 10.1016/j.ncl.2018.04.012. PMID: 30072073
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
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

Prognosis

Hearing Loss and Failed Newborn Hearing Screen.
Dedhia K, Graham E, Park A
Clin Perinatol 2018 Dec;45(4):629-643. Epub 2018 Sep 24 doi: 10.1016/j.clp.2018.07.004. PMID: 30396409
SCARB2/LIMP2 deficiency in action myoclonus-renal failure syndrome.
Dibbens L, Schwake M, Saftig P, Rubboli G
Epileptic Disord 2016 Sep 1;18(S2):63-72. doi: 10.1684/epd.2016.0843. PMID: 27582254
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
Cortical development and neuroplasticity in Auditory Neuropathy Spectrum Disorder.
Sharma A, Cardon G
Hear Res 2015 Dec;330(Pt B):221-32. Epub 2015 Jun 10 doi: 10.1016/j.heares.2015.06.001. PMID: 26070426Free PMC Article
Auditory neuropathy spectrum disorder: a review.
Norrix LW, Velenovsky DS
J Speech Lang Hear Res 2014 Aug;57(4):1564-76. doi: 10.1044/2014_JSLHR-H-13-0213. PMID: 24686491

Clinical prediction guides

Auditory neuropathy in mice and humans with Friedreich ataxia.
Rance G, Carew P, Winata L, Sale P, Delatycki M, Sly D
Ann Clin Transl Neurol 2023 Jun;10(6):953-963. Epub 2023 Apr 14 doi: 10.1002/acn3.51777. PMID: 37060174Free PMC Article
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
Carbon monoxide poisoning.
Weaver LK
Undersea Hyperb Med 2020 First Quarter;47(1):151-169. doi: 10.22462/01.03.2020.17. PMID: 32176957
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
Genetics of vestibular disorders: pathophysiological insights.
Frejo L, Giegling I, Teggi R, Lopez-Escamez JA, Rujescu D
J Neurol 2016 Apr;263 Suppl 1:S45-53. Epub 2016 Apr 15 doi: 10.1007/s00415-015-7988-9. PMID: 27083884Free PMC Article

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
Teflon granulomas mimicking cerebellopontine angle tumors following microvascular decompression.
Deep NL, Graffeo CS, Copeland WR 3rd, Link MJ, Atkinson JL, Neff BA, Raghunathan A, Carlson ML
Laryngoscope 2017 Mar;127(3):715-719. Epub 2016 Jun 19 doi: 10.1002/lary.26126. PMID: 27320780
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

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