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Nonsyndromic Deafness

MedGen UID:
777982
Concept ID:
C3711374
Disease or Syndrome
Synonyms: Non-syndromic hearing loss; Nonsyndromic hearing loss

Professional guidelines

PubMed

Shearer AE, Smith RJ
Curr Opin Pediatr 2012 Dec;24(6):679-86. doi: 10.1097/MOP.0b013e3283588f5e. PMID: 23042251Free PMC Article
Matsunaga T
Keio J Med 2009 Dec;58(4):216-22. doi: 10.2302/kjm.58.216. PMID: 20037285
Smith RJ
Am J Med Genet A 2004 Sep 15;130A(1):8-12. doi: 10.1002/ajmg.a.30053. PMID: 15368487

Recent clinical studies

Etiology

Naz S
Hum Genet 2022 Apr;141(3-4):633-648. Epub 2021 Jul 25 doi: 10.1007/s00439-021-02320-0. PMID: 34308486
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
Zhang M, Han Y, Zhang F, Bai X, Wang H
Acta Otolaryngol 2019 Jul;139(7):612-617. Epub 2019 May 20 doi: 10.1080/00016489.2019.1609699. PMID: 31107121
Xu T, Zhu W, Wang P
Eur Arch Otorhinolaryngol 2019 Jan;276(1):11-16. Epub 2018 Oct 26 doi: 10.1007/s00405-018-5160-8. PMID: 30367262
Zhu YM, Li Y, Wang YL, Bian PP, Xu BC, Liu XW, Chen XJ, Liu F, Guo YF, Wang QJ
Acta Otolaryngol 2015 Sep;135(9):914-8. Epub 2015 Apr 20 doi: 10.3109/00016489.2015.1035796. PMID: 25891447

Diagnosis

Zhu GJ, Huang Y, Zhang L, Yan K, Qiu C, He Y, Liu Q, Zhu C, Morín M, Moreno-Pelayo MÁ, Zhu MS, Cao X, Zhou H, Qian X, Xu Z, Chen J, Gao X, Wan G
EMBO Mol Med 2023 Nov 8;15(11):e17611. Epub 2023 Sep 11 doi: 10.15252/emmm.202317611. PMID: 37691516Free PMC Article
Freeman L, Righetti S, Delatycki MB, Scully JL, Kirk EP
Genet Med 2022 Sep;24(9):1803-1813. Epub 2022 Jun 3 doi: 10.1016/j.gim.2022.05.005. PMID: 35659827
Yan D, Kannan-Sundhari A, Vishwanath S, Qing J, Mittal R, Kameswaran M, Liu XZ
Genet Test Mol Biomarkers 2015 Sep;19(9):512-27. Epub 2015 Jul 17 doi: 10.1089/gtmb.2015.0023. PMID: 26186295Free PMC Article
Ben-Yosef T, Friedman TB
Trends Mol Med 2003 Nov;9(11):496-502. doi: 10.1016/j.molmed.2003.09.004. PMID: 14604828
Zeviani M, Tiranti V, Piantadosi C
Medicine (Baltimore) 1998 Jan;77(1):59-72. doi: 10.1097/00005792-199801000-00006. PMID: 9465864

Therapy

Aliazami F, Gilani S, Farhud D, Naraghi M, Afshari M, Eslami M
Int J Pediatr Otorhinolaryngol 2023 May;168:111512. Epub 2023 Mar 29 doi: 10.1016/j.ijporl.2023.111512. PMID: 37086676
Salame M, Bonnet C, Moctar ECM, Brahim SM, Dedy A, Vetah LA, Veten F, Hamed CT, Petit C, Houmeida A
Eur Arch Otorhinolaryngol 2023 Sep;280(9):4057-4063. Epub 2023 Mar 16 doi: 10.1007/s00405-023-07907-z. PMID: 36928321
Kousha A, Reed M, Else S
BMJ Case Rep 2021 Mar 16;14(3) doi: 10.1136/bcr-2020-241159. PMID: 33727300Free PMC Article
Xu T, Zhu W, Wang P
Eur Arch Otorhinolaryngol 2019 Jan;276(1):11-16. Epub 2018 Oct 26 doi: 10.1007/s00405-018-5160-8. PMID: 30367262
Bindu LH, Reddy PP
Int J Audiol 2008 Nov;47(11):702-7. doi: 10.1080/14992020802215862. PMID: 19031229

Prognosis

Ramzan M, Philippe C, Belyantseva IA, Nakano Y, Fenollar-Ferrer C, Tona R, Yousaf R, Basheer R, Imtiaz A, Faridi R, Munir Z, Idrees H, Salman M, Nambot S, Vitobello A, Kartti S, Zarrik O, Witmer PD, Sobreria N, Ibrahimi A, Banfi B, Moutton S, Friedman TB, Naz S
Hum Mutat 2021 Oct;42(10):1321-1335. Epub 2021 Aug 1 doi: 10.1002/humu.24260. PMID: 34265170Free PMC Article
Dianatpour M, Smith E, Hashemi SB, Farazifard MA, Nezafat N, Razban V, Mani A
Gene 2021 Apr 30;778:145464. Epub 2021 Jan 29 doi: 10.1016/j.gene.2021.145464. PMID: 33524517Free PMC Article
Chen K, Liu M, Wu X, Zong L, Jiang H
Int J Pediatr Otorhinolaryngol 2018 Dec;115:19-23. Epub 2018 Sep 14 doi: 10.1016/j.ijporl.2018.09.008. PMID: 30368385
Yan D, Kannan-Sundhari A, Vishwanath S, Qing J, Mittal R, Kameswaran M, Liu XZ
Genet Test Mol Biomarkers 2015 Sep;19(9):512-27. Epub 2015 Jul 17 doi: 10.1089/gtmb.2015.0023. PMID: 26186295Free PMC Article
Matsunaga T
Keio J Med 2009 Dec;58(4):216-22. doi: 10.2302/kjm.58.216. PMID: 20037285

Clinical prediction guides

Bademci G, Lachgar-Ruiz M, Deokar M, Zafeer MF, Abad C, Yildirim Baylan M, Ingham NJ, Chen J, Sineni CJ, Vadgama N, Karakikes I, Guo S, Duman D, Singh N, Harlalka G, Jain SP, Chioza BA, Walz K, Steel KP, Nasir J, Tekin M
Proc Natl Acad Sci U S A 2022 Jun 28;119(26):e2204084119. Epub 2022 Jun 21 doi: 10.1073/pnas.2204084119. PMID: 35727972Free PMC Article
Al Mutery A, Mahfood M, Chouchen J, Tlili A
Hum Genet 2022 Apr;141(3-4):595-605. Epub 2021 Aug 2 doi: 10.1007/s00439-021-02323-x. PMID: 34338889
Krause A, Seymour H, Ramsay M
Annu Rev Genomics Hum Genet 2018 Aug 31;19:149-175. doi: 10.1146/annurev-genom-083117-021256. PMID: 30169122
Dodson KM, Blanton SH, Welch KO, Norris VW, Nuzzo RL, Wegelin JA, Marin RS, Nance WE, Pandya A, Arnos KS
Am J Med Genet A 2011 May;155A(5):993-1000. Epub 2011 Apr 4 doi: 10.1002/ajmg.a.33828. PMID: 21465647Free PMC Article
Matsunaga T
Keio J Med 2009 Dec;58(4):216-22. doi: 10.2302/kjm.58.216. PMID: 20037285

Recent systematic reviews

Aliazami F, Gilani S, Farhud D, Naraghi M, Afshari M, Eslami M
Int J Pediatr Otorhinolaryngol 2023 May;168:111512. Epub 2023 Mar 29 doi: 10.1016/j.ijporl.2023.111512. PMID: 37086676
Freeman L, Righetti S, Delatycki MB, Scully JL, Kirk EP
Genet Med 2022 Sep;24(9):1803-1813. Epub 2022 Jun 3 doi: 10.1016/j.gim.2022.05.005. PMID: 35659827
Manyisa N, Adadey SM, Wonkam-Tingang E, Yalcouye A, Wonkam A
OMICS 2022 Jan;26(1):2-18. doi: 10.1089/omi.2021.0181. PMID: 35041532Free PMC Article
Ray M, Sarkar S, Sable MN
Biosci Rep 2021 Oct 29;41(10) doi: 10.1042/BSR20211865. PMID: 34714320Free PMC Article

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