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Hearing loss, X-linked 1(DFN2; DFNX1)

MedGen UID:
336749
Concept ID:
C1844677
Disease or Syndrome
Synonyms: Deafness, X-linked 1; DEAFNESS, X-LINKED 2, SENSORINEURAL CONGENITAL; DFNX1 Nonsyndromic Hearing Loss and Deafness
 
Gene (location): PRPS1 (Xq22.3)
 
Monarch Initiative: MONDO:0010577
OMIM®: 304500

Definition

DFNX1 nonsyndromic hearing loss and deafness is part of the spectrum of PRPS1-related disorders. Hearing loss in hemizygous males is bilateral, sensorineural, and moderate to profound; prelingual or postlingual in onset; and progressive or non-progressive. The audiogram shape is variable. Hearing in female carriers can be normal or abnormal. [from GeneReviews]

Clinical features

From HPO
Sensorineural hearing impairment
MedGen UID:
9164
Concept ID:
C0018784
Disease or Syndrome
A type of hearing impairment in one or both ears related to an abnormal functionality of the cochlear nerve.

Professional guidelines

PubMed

Kim JH, Lim SH, Song JY, Cho MH, Hyun H, Yang EM, Lee JW, Cho MH, Park MJ, Lee JH, Jung J, Yoo KH, Jang KM, Pai KS, Suh JS, Namgoong MK, Chung WY, Kim SJ, Cho EY, Kim KM, Kim NH, Kim M, Paik JH, Kang HG, Ahn YH, Cheong HI
Sci Rep 2023 Apr 26;13(1):6827. doi: 10.1038/s41598-023-34053-7. PMID: 37100867Free PMC Article
Zhang X, Zhang Y, Zhang Y, Gu H, Chen Z, Ren L, Lu X, Chen L, Wang F, Liu Y, Ding J
Orphanet J Rare Dis 2018 Dec 22;13(1):229. doi: 10.1186/s13023-018-0974-4. PMID: 30577881Free PMC Article
de Brouwer AP, van Bokhoven H, Nabuurs SB, Arts WF, Christodoulou J, Duley J
Am J Hum Genet 2010 Apr 9;86(4):506-18. doi: 10.1016/j.ajhg.2010.02.024. PMID: 20380929Free PMC Article

Recent clinical studies

Etiology

Parlak S, Gumeler E, Sennaroglu L, Ozgen B
Diagn Interv Radiol 2022 Jan;28(1):50-57. doi: 10.5152/dir.2021.20791. PMID: 34914607
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
Plevová P, Gut J, Janda J
Medicina (Kaunas) 2017;53(1):1-10. Epub 2017 Jan 31 doi: 10.1016/j.medici.2017.01.002. PMID: 28236514
Smeds H, Wales J, Asp F, Löfkvist U, Falahat B, Anderlid BM, Anmyr L, Karltorp E
Otol Neurotol 2017 Jan;38(1):38-46. doi: 10.1097/MAO.0000000000001253. PMID: 27779564
Rheault MN
Pediatr Nephrol 2012 Jan;27(1):41-6. Epub 2011 Mar 5 doi: 10.1007/s00467-011-1836-7. PMID: 21380623Free PMC Article

Diagnosis

Yang T, Guo L, Wang L, Yu X
Adv Exp Med Biol 2019;1130:73-92. doi: 10.1007/978-981-13-6123-4_5. PMID: 30915702
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
Marini JC, Forlino A, Bächinger HP, Bishop NJ, Byers PH, Paepe A, Fassier F, Fratzl-Zelman N, Kozloff KM, Krakow D, Montpetit K, Semler O
Nat Rev Dis Primers 2017 Aug 18;3:17052. doi: 10.1038/nrdp.2017.52. PMID: 28820180
Plevová P, Gut J, Janda J
Medicina (Kaunas) 2017;53(1):1-10. Epub 2017 Jan 31 doi: 10.1016/j.medici.2017.01.002. PMID: 28236514
Lenaers G, Hamel C, Delettre C, Amati-Bonneau P, Procaccio V, Bonneau D, Reynier P, Milea D
Orphanet J Rare Dis 2012 Jul 9;7:46. doi: 10.1186/1750-1172-7-46. PMID: 22776096Free PMC Article

Therapy

Umer M, Motwani M, Jefferies JL, Nagueh SF, Kalra DK
Curr Probl Cardiol 2023 Jan;48(1):101439. Epub 2022 Oct 4 doi: 10.1016/j.cpcardiol.2022.101439. PMID: 36202174
Barua M, John R, Stella L, Li W, Roslin NM, Sharif B, Hack S, Lajoie-Starkell G, Schwaderer AL, Becknell B, Wuttke M, Köttgen A, Cattran D, Paterson AD, Pei Y
Am J Kidney Dis 2018 Mar;71(3):441-445. Epub 2017 Dec 1 doi: 10.1053/j.ajkd.2017.09.005. PMID: 29198386
Moore NA, Morral N, Ciulla TA, Bracha P
Expert Opin Biol Ther 2018 Jan;18(1):37-49. Epub 2017 Oct 23 doi: 10.1080/14712598.2018.1389886. PMID: 29057663
Smeds H, Wales J, Asp F, Löfkvist U, Falahat B, Anderlid BM, Anmyr L, Karltorp E
Otol Neurotol 2017 Jan;38(1):38-46. doi: 10.1097/MAO.0000000000001253. PMID: 27779564
Liu XZ, Xie D, Yuan HJ, de Brouwer AP, Christodoulou J, Yan D
Int J Audiol 2013 Jan;52(1):23-8. Epub 2012 Nov 28 doi: 10.3109/14992027.2012.736032. PMID: 23190330Free PMC Article

Prognosis

Nicklason E, Mack H, Beltz J, Jacob J, Farahani M, Colville D, Savige J
Ophthalmic Genet 2020 Feb;41(1):13-19. Epub 2020 Mar 11 doi: 10.1080/13816810.2019.1709126. PMID: 32159412
Yang T, Guo L, Wang L, Yu X
Adv Exp Med Biol 2019;1130:73-92. doi: 10.1007/978-981-13-6123-4_5. PMID: 30915702
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
Barua M, John R, Stella L, Li W, Roslin NM, Sharif B, Hack S, Lajoie-Starkell G, Schwaderer AL, Becknell B, Wuttke M, Köttgen A, Cattran D, Paterson AD, Pei Y
Am J Kidney Dis 2018 Mar;71(3):441-445. Epub 2017 Dec 1 doi: 10.1053/j.ajkd.2017.09.005. PMID: 29198386
Lenaers G, Hamel C, Delettre C, Amati-Bonneau P, Procaccio V, Bonneau D, Reynier P, Milea D
Orphanet J Rare Dis 2012 Jul 9;7:46. doi: 10.1186/1750-1172-7-46. PMID: 22776096Free PMC Article

Clinical prediction guides

Bosman A, Appelman-Dijkstra NM, Boot AM, de Borst MH, van de Ven AC, de Jongh RT, Bökenkamp A, van den Bergh JP, van der Eerden BCJ, Zillikens MC
Calcif Tissue Int 2024 Mar;114(3):255-266. Epub 2024 Jan 16 doi: 10.1007/s00223-023-01172-2. PMID: 38226986Free PMC Article
Kim JH, Lim SH, Song JY, Cho MH, Hyun H, Yang EM, Lee JW, Cho MH, Park MJ, Lee JH, Jung J, Yoo KH, Jang KM, Pai KS, Suh JS, Namgoong MK, Chung WY, Kim SJ, Cho EY, Kim KM, Kim NH, Kim M, Paik JH, Kang HG, Ahn YH, Cheong HI
Sci Rep 2023 Apr 26;13(1):6827. doi: 10.1038/s41598-023-34053-7. PMID: 37100867Free PMC Article
Plevová P, Gut J, Janda J
Medicina (Kaunas) 2017;53(1):1-10. Epub 2017 Jan 31 doi: 10.1016/j.medici.2017.01.002. PMID: 28236514
Smeds H, Wales J, Asp F, Löfkvist U, Falahat B, Anderlid BM, Anmyr L, Karltorp E
Otol Neurotol 2017 Jan;38(1):38-46. doi: 10.1097/MAO.0000000000001253. PMID: 27779564
Humphries P, Farrar GJ, Kenna P, McWilliam P
Clin Genet 1990 Jul;38(1):1-13. doi: 10.1111/j.1399-0004.1990.tb03541.x. PMID: 2201466

Recent systematic reviews

Smith JD, El-Kashlan N, Darr OAF, Thorne MC
Otolaryngol Head Neck Surg 2021 Jan;164(1):19-26. Epub 2020 Jun 30 doi: 10.1177/0194599820932138. PMID: 32600118

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