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Image from GeneReviews
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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 loss disorder
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.
See: Feature record | Search on this feature

Professional guidelines

PubMed

Patient-reported experience with Fabry disease and its management in the real-world setting: results from a double-blind, cross-sectional survey of 280 respondents.
Berry L, Walter J, Johnson J, Alton J, Powers J, Llòria X, Koulinska I, McGee M, Laney D
Orphanet J Rare Dis 2024 Apr 11;19(1):153. doi: 10.1186/s13023-024-03090-4. PMID: 38605390Free PMC Article
Genotype-phenotype correlation of X-linked Alport syndrome observed in both genders: a multicenter study in South Korea.
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
X-linked Alport syndrome: pathogenic variant features and further auditory genotype-phenotype correlations in males.
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

Recent clinical studies

Therapy

Cardiac Involvement in Fabry Disease and the Role of Multimodality Imaging in Diagnosis and Disease Monitoring.
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
X-Linked Glomerulopathy Due to COL4A5 Founder Variant.
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
Gene therapy for inherited retinal and optic nerve degenerations.
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
X-linked Malformation and Cochlear Implantation.
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
Hearing loss and PRPS1 mutations: Wide spectrum of phenotypes and potential therapy.
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

The timing of auditory sensory deficits in Norrie disease has implications for therapeutic intervention.
Bryant D, Pauzuolyte V, Ingham NJ, Patel A, Pagarkar W, Anderson LA, Smith KE, Moulding DA, Leong YC, Jafree DJ, Long DA, Al-Yassin A, Steel KP, Jagger DJ, Forge A, Berger W, Sowden JC, Bitner-Glindzicz M
JCI Insight 2022 Feb 8;7(3) doi: 10.1172/jci.insight.148586. PMID: 35132964Free PMC Article
Corneal endothelial cell abnormalities in X-linked Alport syndrome.
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
Diagnosis, Intervention, and Prevention of Genetic Hearing Loss.
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
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
Dominant optic atrophy.
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

Disease Manifestations and Complications in Dutch X-Linked Hypophosphatemia Patients.
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
Cone Structure and Function in RPGR- and USH2A-Associated Retinal Degeneration.
Micevych PS, Wong J, Zhou H, Wang RK, Porco TC, Carroll J, Roorda A, Duncan JL
Am J Ophthalmol 2023 Jun;250:1-11. Epub 2023 Jan 14 doi: 10.1016/j.ajo.2023.01.006. PMID: 36646238Free PMC Article
Familial hematuria: A review.
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
X-linked Malformation and Cochlear Implantation.
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
FGFR1 mutations in Kallmann syndrome.
Villanueva C, de Roux N
Front Horm Res 2010;39:51-61. Epub 2010 Apr 8 doi: 10.1159/000312693. PMID: 20389085

Recent systematic reviews

Systematic Review of Outcomes After Cochlear Implantation in Children With X-Linked Deafness-2.
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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