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Hearing loss, autosomal recessive

MedGen UID:
337623
•Concept ID:
C1846647
•
Disease or Syndrome
Synonyms: Autosomal recessive nonsyndromic deafness; Deafness, autosomal recessive; Nonsyndromic Hearing Loss, Recessive; Rare autosomal recessive non-syndromic sensorineural deafness type DFNB
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
•Concept ID:
C0441748
•
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 individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
Autosomal recessive inheritance (Orphanet)
 
Monarch Initiative: MONDO:0019588
OMIM®: 607197
OMIM® Phenotypic series: PS220290
Orphanet: ORPHA90636

Definition

Autosomal recessive form of nonsyndromic deafness. [from MONDO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVHearing loss, autosomal recessive

Professional guidelines

PubMed

Genotype-phenotype correlations and nephroprotective effects of RAAS inhibition in patients with autosomal recessive Alport syndrome.
Zhang Y, Böckhaus J, Wang F, Wang S, Rubel D, Gross O, Ding J
Pediatr Nephrol 2021 Sep;36(9):2719-2730. Epub 2021 Mar 27 doi: 10.1007/s00467-021-05040-9. PMID: 33772369Free PMC Article
Alport Syndrome: Achieving Early Diagnosis and Treatment.
Kashtan CE
Am J Kidney Dis 2021 Feb;77(2):272-279. Epub 2020 Jul 22 doi: 10.1053/j.ajkd.2020.03.026. PMID: 32712016
Kallmann syndrome: phenotype and genotype of hypogonadotropic hypogonadism.
Stamou MI, Georgopoulos NA
Metabolism 2018 Sep;86:124-134. Epub 2017 Nov 3 doi: 10.1016/j.metabol.2017.10.012. PMID: 29108899Free PMC Article

Recent clinical studies

Etiology

Genotype-phenotype correlations and nephroprotective effects of RAAS inhibition in patients with autosomal recessive Alport syndrome.
Zhang Y, Böckhaus J, Wang F, Wang S, Rubel D, Gross O, Ding J
Pediatr Nephrol 2021 Sep;36(9):2719-2730. Epub 2021 Mar 27 doi: 10.1007/s00467-021-05040-9. PMID: 33772369Free PMC Article
Prospective phenotyping of long-term survivors of generalized arterial calcification of infancy (GACI).
Ferreira CR, Hackbarth ME, Ziegler SG, Pan KS, Roberts MS, Rosing DR, Whelpley MS, Bryant JC, Macnamara EF, Wang S, Müller K, Hartley IR, Chew EY, Corden TE, Jacobsen CM, Holm IA, Rutsch F, Dikoglu E, Chen MY, Mughal MZ, Levine MA, Gafni RI, Gahl WA
Genet Med 2021 Feb;23(2):396-407. Epub 2020 Oct 2 doi: 10.1038/s41436-020-00983-0. PMID: 33005041Free PMC Article
Alport Syndrome: Achieving Early Diagnosis and Treatment.
Kashtan CE
Am J Kidney Dis 2021 Feb;77(2):272-279. Epub 2020 Jul 22 doi: 10.1053/j.ajkd.2020.03.026. PMID: 32712016
Consensus interpretation of the p.Met34Thr and p.Val37Ile variants in GJB2 by the ClinGen Hearing Loss Expert Panel.
Shen J, Oza AM, Del Castillo I, Duzkale H, Matsunaga T, Pandya A, Kang HP, Mar-Heyming R, Guha S, Moyer K, Lo C, Kenna M, Alexander JJ, Zhang Y, Hirsch Y, Luo M, Cao Y, Wai Choy K, Cheng YF, Avraham KB, Hu X, Garrido G, Moreno-Pelayo MA, Greinwald J, Zhang K, Zeng Y, Brownstein Z, Basel-Salmon L, Davidov B, Frydman M, Weiden T, Nagan N, Willis A, Hemphill SE, Grant AR, Siegert RK, DiStefano MT, Amr SS, Rehm HL, Abou Tayoun AN; ClinGen Hearing Loss Working Group
Genet Med 2019 Nov;21(11):2442-2452. Epub 2019 Jun 4 doi: 10.1038/s41436-019-0535-9. PMID: 31160754Free PMC Article
Comprehensive Molecular Screening in Chinese Usher Syndrome Patients.
Sun T, Xu K, Ren Y, Xie Y, Zhang X, Tian L, Li Y
Invest Ophthalmol Vis Sci 2018 Mar 1;59(3):1229-1237. doi: 10.1167/iovs.17-23312. PMID: 29625443

Diagnosis

Wolfram Syndrome 1: From Genetics to Therapy.
Rigoli L, Caruso V, Salzano G, Lombardo F
Int J Environ Res Public Health 2022 Mar 9;19(6) doi: 10.3390/ijerph19063225. PMID: 35328914Free PMC Article
MEGDEL Syndrome.
Finsterer J, Scorza FA, Fiorini AC, Scorza CA
Pediatr Neurol 2020 Sep;110:25-29. Epub 2020 Jul 16 doi: 10.1016/j.pediatrneurol.2020.03.009. PMID: 32684373
Characterising the spectrum of autosomal recessive hereditary hearing loss in Iran.
Sloan-Heggen CM, Babanejad M, Beheshtian M, Simpson AC, Booth KT, Ardalani F, Frees KL, Mohseni M, Mozafari R, Mehrjoo Z, Jamali L, Vaziri S, Akhtarkhavari T, Bazazzadegan N, Nikzat N, Arzhangi S, Sabbagh F, Otukesh H, Seifati SM, Khodaei H, Taghdiri M, Meyer NC, Daneshi A, Farhadi M, Kahrizi K, Smith RJ, Azaiez H, Najmabadi H
J Med Genet 2015 Dec;52(12):823-9. Epub 2015 Oct 7 doi: 10.1136/jmedgenet-2015-103389. PMID: 26445815Free PMC Article
Johanson-blizzard syndrome.
Godbole K, Maja S, Leena H, Martin Z
Indian Pediatr 2013 May 8;50(5):510-2. PMID: 23778732
Autosomal dominant microtia.
Chafai Elalaoui S, Cherkaoui Jaouad I, Rifai L, Sefiani A
Eur J Med Genet 2010 Mar-Apr;53(2):100-3. Epub 2010 Feb 10 doi: 10.1016/j.ejmg.2010.02.002. PMID: 20152949

Therapy

AAV1-hOTOF gene therapy for autosomal recessive deafness 9: a single-arm trial.
Lv J, Wang H, Cheng X, Chen Y, Wang D, Zhang L, Cao Q, Tang H, Hu S, Gao K, Xun M, Wang J, Wang Z, Zhu B, Cui C, Gao Z, Guo L, Yu S, Jiang L, Yin Y, Zhang J, Chen B, Wang W, Chai R, Chen ZY, Li H, Shu Y
Lancet 2024 May 25;403(10441):2317-2325. Epub 2024 Jan 24 doi: 10.1016/S0140-6736(23)02874-X. PMID: 38280389
AAV-Mediated Gene Therapy Restores Hearing in Patients with DFNB9 Deafness.
Qi J, Tan F, Zhang L, Lu L, Zhang S, Zhai Y, Lu Y, Qian X, Dong W, Zhou Y, Zhang Z, Yang X, Jiang L, Yu C, Liu J, Chen T, Wu L, Tan C, Sun S, Song H, Shu Y, Xu L, Gao X, Li H, Chai R
Adv Sci (Weinh) 2024 Mar;11(11):e2306788. Epub 2024 Jan 8 doi: 10.1002/advs.202306788. PMID: 38189623Free PMC Article
Genotype-phenotype correlations and nephroprotective effects of RAAS inhibition in patients with autosomal recessive Alport syndrome.
Zhang Y, Böckhaus J, Wang F, Wang S, Rubel D, Gross O, Ding J
Pediatr Nephrol 2021 Sep;36(9):2719-2730. Epub 2021 Mar 27 doi: 10.1007/s00467-021-05040-9. PMID: 33772369Free PMC Article
Alport Syndrome: Achieving Early Diagnosis and Treatment.
Kashtan CE
Am J Kidney Dis 2021 Feb;77(2):272-279. Epub 2020 Jul 22 doi: 10.1053/j.ajkd.2020.03.026. PMID: 32712016
Biotinidase deficiency mimicking primary immune deficiencies.
Kiykim E, Kiykim A, Cansever MS, Zeybek CA
BMJ Case Rep 2015 May 8;2015 doi: 10.1136/bcr-2014-209275. PMID: 25956498Free PMC Article

Prognosis

Alport Syndrome.
Chavez E, Goncalves S, Rheault MN, Fornoni A
Adv Kidney Dis Health 2024 May;31(3):170-179. doi: 10.1053/j.akdh.2024.02.004. PMID: 39004457
Novel GPR156 variants confirm its role in moderate sensorineural hearing loss.
Ramzan M, Bozan N, Seyhan S, Zafeer MF, Ayral A, Duman D, Bademci G, Tekin M
Sci Rep 2023 Oct 9;13(1):17010. doi: 10.1038/s41598-023-44259-4. PMID: 37814107Free PMC Article
Wolfram Syndrome 1: From Genetics to Therapy.
Rigoli L, Caruso V, Salzano G, Lombardo F
Int J Environ Res Public Health 2022 Mar 9;19(6) doi: 10.3390/ijerph19063225. PMID: 35328914Free PMC Article
Prospective phenotyping of long-term survivors of generalized arterial calcification of infancy (GACI).
Ferreira CR, Hackbarth ME, Ziegler SG, Pan KS, Roberts MS, Rosing DR, Whelpley MS, Bryant JC, Macnamara EF, Wang S, Müller K, Hartley IR, Chew EY, Corden TE, Jacobsen CM, Holm IA, Rutsch F, Dikoglu E, Chen MY, Mughal MZ, Levine MA, Gafni RI, Gahl WA
Genet Med 2021 Feb;23(2):396-407. Epub 2020 Oct 2 doi: 10.1038/s41436-020-00983-0. PMID: 33005041Free PMC Article
A review of clinical characteristics and genetic backgrounds in Alport syndrome.
Nozu K, Nakanishi K, Abe Y, Udagawa T, Okada S, Okamoto T, Kaito H, Kanemoto K, Kobayashi A, Tanaka E, Tanaka K, Hama T, Fujimaru R, Miwa S, Yamamura T, Yamamura N, Horinouchi T, Minamikawa S, Nagata M, Iijima K
Clin Exp Nephrol 2019 Feb;23(2):158-168. Epub 2018 Aug 20 doi: 10.1007/s10157-018-1629-4. PMID: 30128941Free PMC Article

Clinical prediction guides

AAV1-hOTOF gene therapy for autosomal recessive deafness 9: a single-arm trial.
Lv J, Wang H, Cheng X, Chen Y, Wang D, Zhang L, Cao Q, Tang H, Hu S, Gao K, Xun M, Wang J, Wang Z, Zhu B, Cui C, Gao Z, Guo L, Yu S, Jiang L, Yin Y, Zhang J, Chen B, Wang W, Chai R, Chen ZY, Li H, Shu Y
Lancet 2024 May 25;403(10441):2317-2325. Epub 2024 Jan 24 doi: 10.1016/S0140-6736(23)02874-X. PMID: 38280389
Novel GPR156 variants confirm its role in moderate sensorineural hearing loss.
Ramzan M, Bozan N, Seyhan S, Zafeer MF, Ayral A, Duman D, Bademci G, Tekin M
Sci Rep 2023 Oct 9;13(1):17010. doi: 10.1038/s41598-023-44259-4. PMID: 37814107Free PMC Article
Compound heterozygous SLC29A3 mutation causes H syndrome in a Moroccan patient: A case report.
Bakhchane A, Kindil Z, Charoute H, Benchikhi K, Khadir K, Nadifi S, Baline K, Roky R, Barakat A
Curr Res Transl Med 2016 Apr-Jun;64(2):65-8. Epub 2016 Jun 1 doi: 10.1016/j.retram.2016.01.008. PMID: 27316388
Comprehensive sequence analysis of nine Usher syndrome genes in the UK National Collaborative Usher Study.
Le Quesne Stabej P, Saihan Z, Rangesh N, Steele-Stallard HB, Ambrose J, Coffey A, Emmerson J, Haralambous E, Hughes Y, Steel KP, Luxon LM, Webster AR, Bitner-Glindzicz M
J Med Genet 2012 Jan;49(1):27-36. Epub 2011 Dec 1 doi: 10.1136/jmedgenet-2011-100468. PMID: 22135276Free PMC Article
Pendred's syndrome.
Kabakkaya Y, Bakan E, Yiğitoğlu MR, Gökçe G, Doğan M
Ann Otol Rhinol Laryngol 1993 Apr;102(4 Pt 1):285-8. doi: 10.1177/000348949310200407. PMID: 8476169

Recent systematic reviews

Charcot-Marie-Tooth Disease and Hearing Loss: A Systematic Review With Meta-Analysis.
Mills JF, Heiland LD, Nguyen SA, Close MF, Meyer TA
Otol Neurotol 2024 Aug 1;45(7):732-739. Epub 2024 Jul 2 doi: 10.1097/MAO.0000000000004243. PMID: 38956759
WFS1 autosomal dominant variants linked with hearing loss: update on structural analysis and cochlear implant outcome.
Lim HD, Lee SM, Yun YJ, Lee DH, Lee JH, Oh SH, Lee SY
BMC Med Genomics 2023 Apr 11;16(1):79. doi: 10.1186/s12920-023-01506-x. PMID: 37041640Free PMC Article
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
Systematic Review on Vestibular Symptoms in Patients With Enlarged Vestibular Aqueducts.
Stahl MC, Otteson T
Laryngoscope 2022 Apr;132(4):873-880. Epub 2021 Aug 16 doi: 10.1002/lary.29819. PMID: 34397103
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

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