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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
Metabolic Treatment of Wolfram Syndrome.
Iafusco D, Zanfardino A, Piscopo A, Curto S, Troncone A, Chianese A, Rollato AS, Testa V, Iafusco F, Maione G, Pennarella A, Boccabella L, Ozen G, Palma PL, Mazzaccara C, Tinto N, Miraglia Del Giudice E
Int J Environ Res Public Health 2022 Feb 27;19(5) doi: 10.3390/ijerph19052755. PMID: 35270448Free 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

Safety Concerns with Nusinersen, Risdiplam, and Onasemnogene Abeparvovec in Spinal Muscular Atrophy: A Real-World Pharmacovigilance Study.
Zhuang W, Lu M, Wu Y, Chen Z, Wang M, Wang X, Guan S, Lin W
Clin Drug Investig 2023 Dec;43(12):949-962. Epub 2023 Nov 23 doi: 10.1007/s40261-023-01320-4. PMID: 37995087
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
Wilson disease.
Aggarwal A, Bhatt M
Curr Opin Neurol 2020 Aug;33(4):534-542. doi: 10.1097/WCO.0000000000000837. PMID: 32657896
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
Barakat syndrome revisited.
Barakat AJ, Raygada M, Rennert OM
Am J Med Genet A 2018 Jun;176(6):1341-1348. Epub 2018 Apr 16 doi: 10.1002/ajmg.a.38693. PMID: 29663634
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
Targeted exon sequencing successfully discovers rare causative genes and clarifies the molecular epidemiology of Japanese deafness patients.
Miyagawa M, Naito T, Nishio SY, Kamatani N, Usami S
PLoS One 2013;8(8):e71381. Epub 2013 Aug 13 doi: 10.1371/journal.pone.0071381. PMID: 23967202Free PMC Article

Therapy

The Study of a 231 French Patient Cohort Significantly Extends the Mutational Spectrum of the Two Major Usher Genes MYO7A and USH2A.
Mansard L, Baux D, Vaché C, Blanchet C, Meunier I, Willems M, Faugère V, Baudoin C, Moclyn M, Bianchi J, Dollfus H, Gilbert-Dussardier B, Dupin-Deguine D, Bonneau D, Drumare I, Odent S, Zanlonghi X, Claustres M, Koenig M, Kalatzis V, Roux AF
Int J Mol Sci 2021 Dec 10;22(24) doi: 10.3390/ijms222413294. PMID: 34948090Free PMC Article
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
Cryopyrin-associated periodic syndrome.
Giat E, Lidar M
Isr Med Assoc J 2014 Oct;16(10):659-61. PMID: 25438464
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

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
Metabolic Treatment of Wolfram Syndrome.
Iafusco D, Zanfardino A, Piscopo A, Curto S, Troncone A, Chianese A, Rollato AS, Testa V, Iafusco F, Maione G, Pennarella A, Boccabella L, Ozen G, Palma PL, Mazzaccara C, Tinto N, Miraglia Del Giudice E
Int J Environ Res Public Health 2022 Feb 27;19(5) doi: 10.3390/ijerph19052755. PMID: 35270448Free 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
Comprehensive molecular diagnosis of 67 Chinese Usher syndrome probands: high rate of ethnicity specific mutations in Chinese USH patients.
Jiang L, Liang X, Li Y, Wang J, Zaneveld JE, Wang H, Xu S, Wang K, Wang B, Chen R, Sui R
Orphanet J Rare Dis 2015 Sep 4;10:110. doi: 10.1186/s13023-015-0329-3. PMID: 26338283Free 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

Clinical features and genetic analysis of Dandy-Walker syndrome.
Sun Y, Wang T, Zhang N, Zhang P, Li Y
BMC Pregnancy Childbirth 2023 Jan 18;23(1):40. doi: 10.1186/s12884-023-05367-1. PMID: 36653756Free 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
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
Comprehensive molecular diagnosis of 67 Chinese Usher syndrome probands: high rate of ethnicity specific mutations in Chinese USH patients.
Jiang L, Liang X, Li Y, Wang J, Zaneveld JE, Wang H, Xu S, Wang K, Wang B, Chen R, Sui R
Orphanet J Rare Dis 2015 Sep 4;10:110. doi: 10.1186/s13023-015-0329-3. PMID: 26338283Free 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

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
Clinical and Therapeutic Aspects of Sideroblastic Anaemia with B-Cell Immunodeficiency, Periodic Fever and Developmental Delay (SIFD) Syndrome: a Systematic Review.
Maccora I, Ramanan AV, Wiseman D, Marrani E, Mastrolia MV, Simonini G
J Clin Immunol 2023 Jan;43(1):1-30. Epub 2022 Aug 19 doi: 10.1007/s10875-022-01343-0. PMID: 35984545Free PMC Article
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
The otolaryngologic manifestations of Sotos syndrome 1: A systematic review.
Danis DO 3rd, Bodamer O, Levi JR
Int J Pediatr Otorhinolaryngol 2021 Apr;143:110649. Epub 2021 Feb 12 doi: 10.1016/j.ijporl.2021.110649. PMID: 33640723
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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