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Retinal ciliopathy due to mutation in the RPGR gene

MedGen UID:
1842288
Concept ID:
C5680669
Disease or Syndrome
Orphanet: ORPHA156171

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVRetinal ciliopathy due to mutation in the RPGR gene

Recent clinical studies

Etiology

Lyraki R, Megaw R, Hurd T
Biochem Soc Trans 2016 Oct 15;44(5):1235-1244. doi: 10.1042/BST20160148. PMID: 27911705
Failly M, Bartoloni L, Letourneau A, Munoz A, Falconnet E, Rossier C, de Santi MM, Santamaria F, Sacco O, DeLozier-Blanchet CD, Lazor R, Blouin JL
J Med Genet 2009 Apr;46(4):281-6. doi: 10.1136/jmg.2008.061176. PMID: 19357118

Diagnosis

Han RC, Taylor LJ, Martinez-Fernandez de la Camara C, Henderson RH, Thompson DA, Cehajic-Kapetanovic J, MacLaren RE
Ophthalmic Genet 2023 Dec;44(6):577-584. Epub 2023 Jan 5 doi: 10.1080/13816810.2022.2163405. PMID: 36602268
Sengillo JD, Fridman G, Cho GY, Buchovecky C, Tsang SH
Ophthalmic Surg Lasers Imaging Retina 2018 Jul 1;49(7):548-552. doi: 10.3928/23258160-20180628-14. PMID: 30021045
Shapiro AJ, Leigh MW
Ultrastruct Pathol 2017 Nov-Dec;41(6):373-385. Epub 2017 Sep 15 doi: 10.1080/01913123.2017.1362088. PMID: 28915070Free PMC Article
Pyo Park S, Hwan Hong I, Tsang SH, Chang S
Eur J Hum Genet 2013 Nov;21(11):1240-8. Epub 2013 Feb 27 doi: 10.1038/ejhg.2013.21. PMID: 23443027Free PMC Article
Storm van's Gravesande K, Omran H
Ann Med 2005;37(6):439-49. doi: 10.1080/07853890510011985. PMID: 16203616

Therapy

Failly M, Bartoloni L, Letourneau A, Munoz A, Falconnet E, Rossier C, de Santi MM, Santamaria F, Sacco O, DeLozier-Blanchet CD, Lazor R, Blouin JL
J Med Genet 2009 Apr;46(4):281-6. doi: 10.1136/jmg.2008.061176. PMID: 19357118
Storm van's Gravesande K, Omran H
Ann Med 2005;37(6):439-49. doi: 10.1080/07853890510011985. PMID: 16203616

Prognosis

Webb TR, Parfitt DA, Gardner JC, Martinez A, Bevilacqua D, Davidson AE, Zito I, Thiselton DL, Ressa JH, Apergi M, Schwarz N, Kanuga N, Michaelides M, Cheetham ME, Gorin MB, Hardcastle AJ
Hum Mol Genet 2012 Aug 15;21(16):3647-54. Epub 2012 May 22 doi: 10.1093/hmg/dds194. PMID: 22619378Free PMC Article
Khanna H, Davis EE, Murga-Zamalloa CA, Estrada-Cuzcano A, Lopez I, den Hollander AI, Zonneveld MN, Othman MI, Waseem N, Chakarova CF, Maubaret C, Diaz-Font A, MacDonald I, Muzny DM, Wheeler DA, Morgan M, Lewis LR, Logan CV, Tan PL, Beer MA, Inglehearn CF, Lewis RA, Jacobson SG, Bergmann C, Beales PL, Attié-Bitach T, Johnson CA, Otto EA, Bhattacharya SS, Hildebrandt F, Gibbs RA, Koenekoop RK, Swaroop A, Katsanis N
Nat Genet 2009 Jun;41(6):739-45. Epub 2009 May 10 doi: 10.1038/ng.366. PMID: 19430481Free PMC Article
Moore A, Escudier E, Roger G, Tamalet A, Pelosse B, Marlin S, Clément A, Geremek M, Delaisi B, Bridoux AM, Coste A, Witt M, Duriez B, Amselem S
J Med Genet 2006 Apr;43(4):326-33. Epub 2005 Jul 31 doi: 10.1136/jmg.2005.034868. PMID: 16055928Free PMC Article

Clinical prediction guides

Moreno-Leon L, West EL, O'Hara-Wright M, Li L, Nair R, He J, Anand M, Sahu B, Chavali VRM, Smith AJ, Ali RR, Jacobson SG, Cideciyan AV, Khanna H
Hum Mol Genet 2021 Jan 21;29(22):3706-3716. doi: 10.1093/hmg/ddaa269. PMID: 33355362Free PMC Article
Deng WL, Gao ML, Lei XL, Lv JN, Zhao H, He KW, Xia XX, Li LY, Chen YC, Li YP, Pan D, Xue T, Jin ZB
Stem Cell Reports 2018 Apr 10;10(4):1267-1281. Epub 2018 Mar 8 doi: 10.1016/j.stemcr.2018.02.003. PMID: 29526738Free PMC Article
Rao KN, Zhang W, Li L, Ronquillo C, Baehr W, Khanna H
Hum Mol Genet 2016 May 15;25(10):2005-2012. Epub 2016 Mar 2 doi: 10.1093/hmg/ddw075. PMID: 26936822Free PMC Article
Khanna H, Davis EE, Murga-Zamalloa CA, Estrada-Cuzcano A, Lopez I, den Hollander AI, Zonneveld MN, Othman MI, Waseem N, Chakarova CF, Maubaret C, Diaz-Font A, MacDonald I, Muzny DM, Wheeler DA, Morgan M, Lewis LR, Logan CV, Tan PL, Beer MA, Inglehearn CF, Lewis RA, Jacobson SG, Bergmann C, Beales PL, Attié-Bitach T, Johnson CA, Otto EA, Bhattacharya SS, Hildebrandt F, Gibbs RA, Koenekoop RK, Swaroop A, Katsanis N
Nat Genet 2009 Jun;41(6):739-45. Epub 2009 May 10 doi: 10.1038/ng.366. PMID: 19430481Free PMC Article
Storm van's Gravesande K, Omran H
Ann Med 2005;37(6):439-49. doi: 10.1080/07853890510011985. PMID: 16203616

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