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Deep intronic mutation in OFD1, identified by targeted genomic next-generation sequencing, causes a severe form of X-linked retinitis pigmentosa (RP23).

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. doi: 10.1093/hmg/dds194. Epub 2012 May 22.


Identification of novel RPGR (retinitis pigmentosa GTPase regulator) mutations in a subset of X-linked retinitis pigmentosa families segregating with the RP3 locus.

Zito I, Thiselton DL, Gorin MB, Stout JT, Plant C, Bird AC, Bhattacharya SS, Hardcastle AJ.

Hum Genet. 1999 Jul-Aug;105(1-2):57-62.


Analysis of the RPGR gene in 11 pedigrees with the retinitis pigmentosa type 3 genotype: paucity of mutations in the coding region but splice defects in two families.

Fujita R, Buraczynska M, Gieser L, Wu W, Forsythe P, Abrahamson M, Jacobson SG, Sieving PA, Andréasson S, Swaroop A.

Am J Hum Genet. 1997 Sep;61(3):571-80.


Identification of an intronic single-point mutation in RP2 as the cause of semidominant X-linked retinitis pigmentosa.

Pomares E, Riera M, Castro-Navarro J, Andrés-Gutiérrez A, Gonzàlez-Duarte R, Marfany G.

Invest Ophthalmol Vis Sci. 2009 Nov;50(11):5107-14. doi: 10.1167/iovs.08-3208. Epub 2009 Jun 10.


Mutation analysis of the RPGR gene reveals novel mutations in south European patients with X-linked retinitis pigmentosa.

Miano MG, Testa F, Strazzullo M, Trujillo M, De Bernardo C, Grammatico B, Simonelli F, Mangino M, Torrente I, Ruberto G, Beneyto M, Antinolo G, Rinaldi E, Danesino C, Ventruto V, D'Urso M, Ayuso C, Baiget M, Ciccodicola A.

Eur J Hum Genet. 1999 Sep;7(6):687-94.


RPGR transcription studies in mouse and human tissues reveal a retina-specific isoform that is disrupted in a patient with X-linked retinitis pigmentosa.

Kirschner R, Rosenberg T, Schultz-Heienbrok R, Lenzner S, Feil S, Roepman R, Cremers FP, Ropers HH, Berger W.

Hum Mol Genet. 1999 Aug;8(8):1571-8.


X-linked retinitis pigmentosa: RPGR mutations in most families with definite X linkage and clustering of mutations in a short sequence stretch of exon ORF15.

Bader I, Brandau O, Achatz H, Apfelstedt-Sylla E, Hergersberg M, Lorenz B, Wissinger B, Wittwer B, Rudolph G, Meindl A, Meitinger T.

Invest Ophthalmol Vis Sci. 2003 Apr;44(4):1458-63.


Clinical studies of X-linked retinitis pigmentosa in three Swedish families with newly identified mutations in the RP2 and RPGR-ORF15 genes.

Andréasson S, Breuer DK, Eksandh L, Ponjavic V, Frennesson C, Hiriyanna S, Filippova E, Yashar BM, Swaroop A.

Ophthalmic Genet. 2003 Dec;24(4):215-23.


Evidence for a new locus for X-linked retinitis pigmentosa (RP23).

Hardcastle AJ, Thiselton DL, Zito I, Ebenezer N, Mah TS, Gorin MB, Bhattacharya SS.

Invest Ophthalmol Vis Sci. 2000 Jul;41(8):2080-6.


A comprehensive mutation analysis of RP2 and RPGR in a North American cohort of families with X-linked retinitis pigmentosa.

Breuer DK, Yashar BM, Filippova E, Hiriyanna S, Lyons RH, Mears AJ, Asaye B, Acar C, Vervoort R, Wright AF, Musarella MA, Wheeler P, MacDonald I, Iannaccone A, Birch D, Hoffman DR, Fishman GA, Heckenlively JR, Jacobson SG, Sieving PA, Swaroop A.

Am J Hum Genet. 2002 Jun;70(6):1545-54. Epub 2002 Apr 30.


OFD1 is mutated in X-linked Joubert syndrome and interacts with LCA5-encoded lebercilin.

Coene KL, Roepman R, Doherty D, Afroze B, Kroes HY, Letteboer SJ, Ngu LH, Budny B, van Wijk E, Gorden NT, Azhimi M, Thauvin-Robinet C, Veltman JA, Boink M, Kleefstra T, Cremers FP, van Bokhoven H, de Brouwer AP.

Am J Hum Genet. 2009 Oct;85(4):465-81. doi: 10.1016/j.ajhg.2009.09.002.


Mutational hot spot within a new RPGR exon in X-linked retinitis pigmentosa.

Vervoort R, Lennon A, Bird AC, Tulloch B, Axton R, Miano MG, Meindl A, Meitinger T, Ciccodicola A, Wright AF.

Nat Genet. 2000 Aug;25(4):462-6.


Identification of novel RP2 mutations in a subset of X-linked retinitis pigmentosa families and prediction of new domains.

Miano MG, Testa F, Filippini F, Trujillo M, Conte I, Lanzara C, Millán JM, De Bernardo C, Grammatico B, Mangino M, Torrente I, Carrozzo R, Simonelli F, Rinaldi E, Ventruto V, D'Urso M, Ayuso C, Ciccodicola A.

Hum Mutat. 2001 Aug;18(2):109-19.


Three novel mutations causing a truncated protein within the RP2 gene in Italian families with X-linked retinitis pigmentosa.

De Luca A, Torrente I, Mangino M, Danesi R, Dallapiccola B, Novelli G.

Mutat Res. 2001 Jan;432(3-4):79-82.


RP2 and RPGR mutations and clinical correlations in patients with X-linked retinitis pigmentosa.

Sharon D, Sandberg MA, Rabe VW, Stillberger M, Dryja TP, Berson EL.

Am J Hum Genet. 2003 Nov;73(5):1131-46. Epub 2003 Oct 16.


A single-base substitution within an intronic repetitive element causes dominant retinitis pigmentosa with reduced penetrance.

Rio Frio T, McGee TL, Wade NM, Iseli C, Beckmann JS, Berson EL, Rivolta C.

Hum Mutat. 2009 Sep;30(9):1340-7. doi: 10.1002/humu.21071.


DNA sequence comparison of human and mouse retinitis pigmentosa GTPase regulator (RPGR) identifies tissue-specific exons and putative regulatory elements.

Kirschner R, Erturk D, Zeitz C, Sahin S, Ramser J, Cremers FP, Ropers HH, Berger W.

Hum Genet. 2001 Sep;109(3):271-8.


X-linked retinitis pigmentosa: mutation spectrum of the RPGR and RP2 genes and correlation with visual function.

Sharon D, Bruns GA, McGee TL, Sandberg MA, Berson EL, Dryja TP.

Invest Ophthalmol Vis Sci. 2000 Aug;41(9):2712-21.


Mutation- and tissue-specific alterations of RPGR transcripts.

Schmid F, Glaus E, Cremers FP, Kloeckener-Gruissem B, Berger W, Neidhardt J.

Invest Ophthalmol Vis Sci. 2010 Mar;51(3):1628-35. doi: 10.1167/iovs.09-4031. Epub 2009 Oct 15.


Novel mutations including deletions of the entire OFD1 gene in 30 families with type 1 orofaciodigital syndrome: a study of the extensive clinical variability.

Bisschoff IJ, Zeschnigk C, Horn D, Wellek B, Rieß A, Wessels M, Willems P, Jensen P, Busche A, Bekkebraten J, Chopra M, Hove HD, Evers C, Heimdal K, Kaiser AS, Kunstmann E, Robinson KL, Linné M, Martin P, McGrath J, Pradel W, Prescott KE, Roesler B, Rudolf G, Siebers-Renelt U, Tyshchenko N, Wieczorek D, Wolff G, Dobyns WB, Morris-Rosendahl DJ.

Hum Mutat. 2013 Jan;34(1):237-47. doi: 10.1002/humu.22224. Epub 2012 Oct 17.

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