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Rare genetic deafness

MedGen UID:
1842837
•Concept ID:
C5680250
•
Disease or Syndrome
Synonym: Rare genetic hearing loss
 
Orphanet: ORPHA96210

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • Rare genetic deafness

Professional guidelines

PubMed

Genetic screening of a Chinese cohort of children with hearing loss using a next-generation sequencing panel.
Ma J, Ma X, Lin K, Huang R, Bi X, Ming C, Li L, Li X, Li G, Zhao L, Yang T, Gao Y, Zhang T
Hum Genomics 2023 Jan 4;17(1):1. doi: 10.1186/s40246-022-00449-1. PMID: 36597107Free PMC Article
Consensus clinical management guidelines for Alström syndrome.
Tahani N, Maffei P, Dollfus H, Paisey R, Valverde D, Milan G, Han JC, Favaretto F, Madathil SC, Dawson C, Armstrong MJ, Warfield AT, Düzenli S, Francomano CA, Gunay-Aygun M, Dassie F, Marion V, Valenti M, Leeson-Beevers K, Chivers A, Steeds R, Barrett T, Geberhiwot T
Orphanet J Rare Dis 2020 Sep 21;15(1):253. doi: 10.1186/s13023-020-01468-8. PMID: 32958032Free PMC Article
Wolfram Syndrome: Diagnosis, Management, and Treatment.
Urano F
Curr Diab Rep 2016 Jan;16(1):6. doi: 10.1007/s11892-015-0702-6. PMID: 26742931Free PMC Article

Recent clinical studies

Etiology

Genetic screening of a Chinese cohort of children with hearing loss using a next-generation sequencing panel.
Ma J, Ma X, Lin K, Huang R, Bi X, Ming C, Li L, Li X, Li G, Zhao L, Yang T, Gao Y, Zhang T
Hum Genomics 2023 Jan 4;17(1):1. doi: 10.1186/s40246-022-00449-1. PMID: 36597107Free PMC Article
Mitochondrial Retinopathy.
Birtel J, von Landenberg C, Gliem M, Gliem C, Reimann J, Kunz WS, Herrmann P, Betz C, Caswell R, Nesbitt V, Kornblum C, Charbel Issa P
Ophthalmol Retina 2022 Jan;6(1):65-79. Epub 2021 Jul 10 doi: 10.1016/j.oret.2021.02.017. PMID: 34257060
Xeroderma pigmentosum: overview of pharmacology and novel therapeutic strategies for neurological symptoms.
Abeti R, Zeitlberger A, Peelo C, Fassihi H, Sarkany RPE, Lehmann AR, Giunti P
Br J Pharmacol 2019 Nov;176(22):4293-4301. Epub 2019 Jan 23 doi: 10.1111/bph.14557. PMID: 30499105Free PMC Article
Convergence of Human Genetics and Animal Studies: Gene Therapy for X-Linked Retinoschisis.
Bush RA, Wei LL, Sieving PA
Cold Spring Harb Perspect Med 2015 Jun 22;5(8):a017368. doi: 10.1101/cshperspect.a017368. PMID: 26101206Free PMC Article
Leopard syndrome.
Sarkozy A, Digilio MC, Dallapiccola B
Orphanet J Rare Dis 2008 May 27;3:13. doi: 10.1186/1750-1172-3-13. PMID: 18505544Free PMC Article

Diagnosis

Genetic screening of a Chinese cohort of children with hearing loss using a next-generation sequencing panel.
Ma J, Ma X, Lin K, Huang R, Bi X, Ming C, Li L, Li X, Li G, Zhao L, Yang T, Gao Y, Zhang T
Hum Genomics 2023 Jan 4;17(1):1. doi: 10.1186/s40246-022-00449-1. PMID: 36597107Free 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
Genetic characteristics of retinitis pigmentosa in 1204 Japanese patients.
Koyanagi Y, Akiyama M, Nishiguchi KM, Momozawa Y, Kamatani Y, Takata S, Inai C, Iwasaki Y, Kumano M, Murakami Y, Omodaka K, Abe T, Komori S, Gao D, Hirakata T, Kurata K, Hosono K, Ueno S, Hotta Y, Murakami A, Terasaki H, Wada Y, Nakazawa T, Ishibashi T, Ikeda Y, Kubo M, Sonoda KH
J Med Genet 2019 Oct;56(10):662-670. Epub 2019 Jun 17 doi: 10.1136/jmedgenet-2018-105691. PMID: 31213501
Wolfram Syndrome: Diagnosis, Management, and Treatment.
Urano F
Curr Diab Rep 2016 Jan;16(1):6. doi: 10.1007/s11892-015-0702-6. PMID: 26742931Free PMC Article
Johanson-Blizzard syndrome.
Almashraki N, Abdulnabee MZ, Sukalo M, Alrajoudi A, Sharafadeen I, Zenker M
World J Gastroenterol 2011 Oct 7;17(37):4247-50. doi: 10.3748/wjg.v17.i37.4247. PMID: 22072859Free PMC Article

Therapy

A revealing flaw.
Leslie M
Science 2021 Feb 12;371(6530):663-665. doi: 10.1126/science.371.6530.663. PMID: 33574194
Wilson disease.
Aggarwal A, Bhatt M
Curr Opin Neurol 2020 Aug;33(4):534-542. doi: 10.1097/WCO.0000000000000837. PMID: 32657896
Congenital diabetes mellitus.
Iafusco D, Zanfardino A, Bonfanti R, Rabbone I, Tinto N, Iafusco F, Meola S, Gicchino MF, Ozen G, Casaburo F, Piscopo A, Miraglia Del Giudice E, Barbetti F
Minerva Pediatr 2020 Aug;72(4):240-249. Epub 2020 Apr 9 doi: 10.23736/S0026-4946.20.05838-7. PMID: 32274916
Current Landscape of Treatments for Wolfram Syndrome.
Abreu D, Urano F
Trends Pharmacol Sci 2019 Oct;40(10):711-714. Epub 2019 Aug 13 doi: 10.1016/j.tips.2019.07.011. PMID: 31420094Free PMC Article
CHARGE syndrome.
Blake KD, Prasad C
Orphanet J Rare Dis 2006 Sep 7;1:34. doi: 10.1186/1750-1172-1-34. PMID: 16959034Free PMC Article

Prognosis

The genetic and clinical characteristics of WFS1 related diabetes in Chinese early onset type 2 diabetes.
Li Y, Gong S, Li M, Cai X, Liu W, Zhang S, Ma Y, Luo Y, Zhou L, Zhang X, Huang X, Gao X, Hu M, Li Y, Ren Q, Wang Y, Zhou X, Han X, Ji L
Sci Rep 2023 Jun 5;13(1):9127. doi: 10.1038/s41598-023-36334-7. PMID: 37277527Free 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
Wolfram Syndrome: Diagnosis, Management, and Treatment.
Urano F
Curr Diab Rep 2016 Jan;16(1):6. doi: 10.1007/s11892-015-0702-6. PMID: 26742931Free PMC Article
Convergence of Human Genetics and Animal Studies: Gene Therapy for X-Linked Retinoschisis.
Bush RA, Wei LL, Sieving PA
Cold Spring Harb Perspect Med 2015 Jun 22;5(8):a017368. doi: 10.1101/cshperspect.a017368. PMID: 26101206Free PMC Article
Leopard syndrome.
Sarkozy A, Digilio MC, Dallapiccola B
Orphanet J Rare Dis 2008 May 27;3:13. doi: 10.1186/1750-1172-3-13. PMID: 18505544Free PMC Article

Clinical prediction guides

Fine-scale genetic structure and rare variant frequencies.
Gagnon L, Moreau C, Laprise C, Girard SL
PLoS One 2024;19(11):e0313133. Epub 2024 Nov 5 doi: 10.1371/journal.pone.0313133. PMID: 39499706Free PMC Article
The genetic and clinical characteristics of WFS1 related diabetes in Chinese early onset type 2 diabetes.
Li Y, Gong S, Li M, Cai X, Liu W, Zhang S, Ma Y, Luo Y, Zhou L, Zhang X, Huang X, Gao X, Hu M, Li Y, Ren Q, Wang Y, Zhou X, Han X, Ji L
Sci Rep 2023 Jun 5;13(1):9127. doi: 10.1038/s41598-023-36334-7. PMID: 37277527Free PMC Article
Genetic screening of a Chinese cohort of children with hearing loss using a next-generation sequencing panel.
Ma J, Ma X, Lin K, Huang R, Bi X, Ming C, Li L, Li X, Li G, Zhao L, Yang T, Gao Y, Zhang T
Hum Genomics 2023 Jan 4;17(1):1. doi: 10.1186/s40246-022-00449-1. PMID: 36597107Free PMC Article
Prediction and interpretation of rare missense variant in OTOG associated with hearing loss.
Askari M, Moradi Z, Mohammadi M, Lagzian M, Asgharzade S
Genomics 2021 Jul;113(4):2793-2799. Epub 2021 Jun 9 doi: 10.1016/j.ygeno.2021.06.012. PMID: 34118384
Congenital diabetes mellitus.
Iafusco D, Zanfardino A, Bonfanti R, Rabbone I, Tinto N, Iafusco F, Meola S, Gicchino MF, Ozen G, Casaburo F, Piscopo A, Miraglia Del Giudice E, Barbetti F
Minerva Pediatr 2020 Aug;72(4):240-249. Epub 2020 Apr 9 doi: 10.23736/S0026-4946.20.05838-7. PMID: 32274916

Recent systematic reviews

HDR syndrome: Large cohort and systematic review.
Rive Le Gouard N, Lafond-Rive V, Jonard L, Loundon N, Achard S, Heidet L, Mosnier I, Lyonnet S, Brioude F, Serey Gaut M, Marlin S
Clin Genet 2024 Nov;106(5):564-573. Epub 2024 Jun 28 doi: 10.1111/cge.14583. PMID: 38940299
The p.C759F Variant in USH2A Is a Pathogenic Mutation: Systematic Literature Review and Meta-Analysis of 667 Genotypes.
Han JH, Cancellieri F, Perea-Romero I, Ayuso C, Quinodoz M, Rivolta C
Ophthalmic Res 2024;67(1):107-114. Epub 2023 Nov 28 doi: 10.1159/000535545. PMID: 38016437
CHARGE syndrome and congenital heart diseases: systematic review of literature.
Polito MV, Ferraioli M, Nocilla A, Coppola G, D'Auria F, Marzano A, Barnabei L, Malinconico M, Bossone E, Ferrara F
Monaldi Arch Chest Dis 2023 Sep 6;94(3) doi: 10.4081/monaldi.2023.2661. PMID: 37675914
Wolfram Syndrome Type 2: A Systematic Review of a Not Easily Identifiable Clinical Spectrum.
Rosanio FM, Di Candia F, Occhiati L, Fedi L, Malvone FP, Foschini DF, Franzese A, Mozzillo E
Int J Environ Res Public Health 2022 Jan 12;19(2) doi: 10.3390/ijerph19020835. PMID: 35055657Free PMC Article
Consensus clinical management guidelines for Alström syndrome.
Tahani N, Maffei P, Dollfus H, Paisey R, Valverde D, Milan G, Han JC, Favaretto F, Madathil SC, Dawson C, Armstrong MJ, Warfield AT, Düzenli S, Francomano CA, Gunay-Aygun M, Dassie F, Marion V, Valenti M, Leeson-Beevers K, Chivers A, Steeds R, Barrett T, Geberhiwot T
Orphanet J Rare Dis 2020 Sep 21;15(1):253. doi: 10.1186/s13023-020-01468-8. PMID: 32958032Free PMC Article

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