| 1 | DFN2, PRPS1
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| Mutations in PRPS1 causing syndromic or nonsyndromic hearing impairment: intrafamilial phenotypic variation complicates genetic counseling.
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| Gandía M, Fernández-Toral J, Solanellas J, Domínguez-Ruiz M, Gómez-Rosas E, Del Castillo FJ, Villamar M, Moreno-Pelayo MA, Del Castillo I.
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| Pediatr Res 78(1):97-102. doi: 10.1038/pr.2015.56. Epub 2015 Mar 18.
2015
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| 2 | DFN2, PRPS1
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| Novel autosomal recessive nonsyndromic hearing impairment locus DFNB90 maps to 7p22.1-p15.3.
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| Ali G, Lee K, Andrade PB, Basit S, Santos-Cortez RL, Chen L, Jelani M, Ansar M, Ahmad W, Leal SM.
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| Hum Hered 71(2):106-12. doi: 10.1159/000320154. Epub 2011 Jul 6.
2011
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| 3 | DFN2, PRPS1
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| Loss-of-function mutations in the PRPS1 gene cause a type of nonsyndromic X-linked sensorineural deafness, DFN2.
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| Liu X, Han D, Li J, Han B, Ouyang X, Cheng J, Li X, Jin Z, Wang Y, Bitner-Glindzicz M, Kong X, Xu H, Kantardzhieva A, Eavey RD, Seidman CE, Seidman JG, Du LL, Chen ZY, Dai P, Teng M, Yan D, Yuan H.
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| Am J Hum Genet 86(1):65-71.PMID: 20021999 2010
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| 4 | ARTS, CMTX5, DFN2, PRPS1
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| PRPS1 mutations: four distinct syndromes and potential treatment.
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| de Brouwer AP, van Bokhoven H, Nabuurs SB, Arts WF, Christodoulou J, Duley J.
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| Am J Hum Genet 86(4):506-18. Review.PMID: 20380929 2010
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| 5 | ARTS, CMTX5, DFN2, PRPS1
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| Arts syndrome is caused by loss-of-function mutations in PRPS1.
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| de Brouwer AP, Williams KL, Duley JA, van Kuilenburg AB, Nabuurs SB, Egmont-Petersen M, Lugtenberg D, Zoetekouw L, Banning MJ, Roeffen M, Hamel BC, Weaving L, Ouvrier RA, Donald JA, Wevers RA, Christodoulou J, van Bokhoven H.
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| Am J Hum Genet 81(3):507-18. Epub 2007 Aug 3.PMID: 17701896 2007
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| 6 | DFN2, DFNA10, DFNA13, DFNA18, DFNA2, DFNA4, DFNA5, DFNA6, DFNB12, DFNB13, DFNB15, DFNB16, DFNB17, DFNB19, DFNB6, DFNB7, DFNB8, USH1D, USH1E, USH1F, CLRN1
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| Human cochlear expressed sequence tags provide insight into cochlear gene expression and identify candidate genes for deafness.
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| Skvorak AB, et al.
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| Hum Mol Genet 8(3):439-52 1999
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