A novel mutation in retinitis pigmentosa GTPase regulator gene with a distinctive retinitis pigmentosa phenotype in a chinese family

Molecular Vision

Volumn 16, Issue , 2010, Pages 1620-1628

  Sheng, Xunlun ^a   Li, Zili ^b   Zhang, Xinfang ^c   Wang, Jing ^d   Ren, Hongwang ^c   Sun, Yanbo ^c   Meng, Ruihua ^d   Rong, Weining ^a   Zhuang, Wenjuan ^b,e  

^a Department of Ophthalmology   (China)

^b AFFILIATED HOSPITAL OF NINGXIA MEDICAL UNIVERSITY   (China)

^c NINGXIA MEDICAL UNIVERSITY   (China)

^d QINGDAO UNIVERSITY   (China)

^e CHONGQING MEDICAL UNIVERSITY   (China)

Author keywords

[No Author keywords available]

Indexed keywords

GUANOSINE TRIPHOSPHATASE;

ARTICLE; CHINESE; CONTROLLED STUDY; FAMILY ASSESSMENT; FAMILY STUDY; FEMALE; GENE DELETION; GENE MUTATION; HETEROZYGOSITY; HOMOZYGOSITY; HUMAN; MAJOR CLINICAL STUDY; MALE; MUTATIONAL ANALYSIS; MYOPIA; NIGHT BLINDNESS; ONSET AGE; OPEN READING FRAME; PEDIGREE; PHENOTYPE; PRIORITY JOURNAL; REFRACTION ERROR; RETINITIS PIGMENTOSA; VISUAL ACUITY; X CHROMOSOME RECESSIVE INHERITANCE;

ADOLESCENT; ADULT; AGED; ASIAN CONTINENTAL ANCESTRY GROUP; BASE SEQUENCE; CHILD; CHILD, PRESCHOOL; CHINA; DNA MUTATIONAL ANALYSIS; ELECTRORETINOGRAPHY; EXONS; EYE PROTEINS; FAMILY; FEMALE; FUNDUS OCULI; GENES, X-LINKED; HETEROZYGOTE; HUMANS; MALE; MIDDLE AGED; MOLECULAR SEQUENCE DATA; MUTATION; PEDIGREE; PHENOTYPE; RETINITIS PIGMENTOSA; YOUNG ADULT;

EID: 77956959517     PISSN: None     EISSN: 10900535     Source Type: Journal    
DOI: None     Document Type: Article

References (39)

1. Bird AC. X-linked retinitis pigmentosa. Br J Ophthalmol 1975; 59:177-199.
2. Hu DN. Prevalence and mode of inheritance of major genetic eye diseases in China. J Med Genet 1987; 24:584-588.
3. Berson EL. Retinitis pigmentosa. The Friedenwald Lecture. Invest Ophthalmol Vis Sci 1993; 34:1659-1676.
4. Rivolta C, Sharon D, DeAngelis MM, Dryja TP. Retinitis pigmentosa and allied diseases: numerous diseases, genes, and inheritance patterns. Hum Mol Genet 2002; 11:1219-1227.
5. Fishman GA. Retinitis pigmentosa: genetic percentages. Arch Ophthalmol 1978; 96:822-826.
6. Boughman JA, Conneally PM, Nance WE. Population genetic studies of retinitis pigmentosa. Am J Hum Genet 1980; 32:223-235.
7. Jay M. On the heredity of retinitis pigmentosa. Br J Ophthalmol 1982; 66:405-416.
8. Haim M. Retinitis pigmentosa: problems associated with genetic classification. Clin Genet 1993; 44:62-70.
9. Musarella MA, Burghes A, Anson-Cartwright L, Mahtani MM, Argonza R, Tsui LC, Worton R. Localization of the gene for X-linked recessive type of retinitis pigmentosa (XLRP) to Xp21 by linkage analysis. Am J Hum Genet 1988; 43:484-494.
10. Schwahn U, Lenzner S, Dong J, Feil S, Hinzmann B, van Duijnhoven G, Kirschner R, Hemberger M, Bergen AA, Rosenberg T, Pinckers AJ, Fundele R, Rosenthal A, Cremers FP, Ropers HH, Berger W. Positional cloning of the gene for X-linked retinitis pigmentosa 2. Nat Genet 1998; 19:327-332.
11. Neidhardt J, Glaus E, Barthelmes D, Zeitz C, Fleischhauer J, Berger W. Identification and characterization of a novel RPGR isoform in human retina. Hum Mutat 2007; 28:797-807.
12. Vervoort R, Lennon A, Bird AC, Tulloch B, Axton R, Miano MG, Meindl A, Meitinger T, Ciccodicola A, Wright AF. Mutational hot spot within a new RPGR exon in X-linked retinitis pigmentosa. Nat Genet 2000; 25:462-466.
13. Kirschner R, Rosenberg T, Schultz-Heienbrok R, Lenzner S, Feil S, Roepman R, Cremers FP, Ropers HH, Berger W. RPGR transcription studies in mouse and human tissues reveal a retina-specific isoform that is disrupted in a patient with X-linked retinitis pigmentosa. Hum Mol Genet 1999; 8:1571-1578.
14. Neidhardt J, Glaus E, Lorenz B, Netzer C, Li Y, Schambeck M, Wittmer M, Feil S, Kirschner-Schwabe R, Rosenberg T, Cremers FP, Bergen AA, Barthelmes D, Baraki H, Schmid F, Tanner G, Fleischhauer J, Orth U, Becker C, Wegscheider E, Nürnberg G, Nürnberg P, Bolz HJ, Gal A, Berger W. Identification of novel mutations in X-linked retinitis pigmentosa families and implications for diagnostic testing. Mol Vis 2008; 14:1081-1093.
15. Rozet JM, Perrault I, Gigarel N, Souied E, Ghazi I, Gerber S, Dufier JL, Munnich A, Kaplan J. Dominant X linked retinitis pigmentosa is frequently accounted for by truncating mutations in exon ORF15 of the RPGR gene. J Med Genet 2002; 39:284-285.
16. Hong DH, Pawlyk BS, Adamian M, Li T. Dominant, gain-offunction mutant produced by truncation of RPGR. Invest Ophthalmol Vis Sci 2004; 451:36-41.
17. Kaplan J, Pelet A, Martin C, Delrieu O, Aymé S, Bonneau D, Briard ML, Hanauer A, Larget-Piet L, Lefrançois P. Phenotype-genotype correlations in X linked retinitis pigmentosa. J Med Genet 1992; 29:615-623.
18. Flaxel CJ, Jay M, Thiselton DL, Nayudu M, Hardcastle AJ, Wright A, Bird AC. Difference between RP2 and RP3 phenotypes in X linked retinitis pigmentosa. Br J Ophthalmol 1999; 83:1144-1148.
19. Koenekoop RK, Loyer M, Hand CK, Al Mahdi H, Dembinska O, Beneish R, Racine J, Rouleau GA. Novel RPGR mutations with distinct retinitis pigmentosa phenotypes in French-Canadian families. Am J Ophthalmol 2003; 136:678-687.
20. Jin ZB, Gu F, Ma X, Nao-i N. Identification of a novel RPGR exon ORF15 mutation in a family with X-linked retinitis pigmentosa. Arch Ophthalmol 2007; 125:1407-1412.
21. Ruddle JB, Ebenezer ND, Kearns LS, Mulhall LE, Mackey DA, Hardcastle AJ. RPGR ORF15 genotype and clinical variability of retinal degeneration in an Australian population. Br J Ophthalmol 2009; 93:1151-1154.
22. Al-Maskari A, O'grady A, Pal B, McKibbin M. Phenotypic progression in X-linked retinitis pigmentosa secondary to a novel mutation in the RPGR gene. Eye (Lond) 2009; 23:519-521.
23. Yang LI, Dong B, Hu AL, Cui TT, Zheng YY. A novel RPGR gene mutation in a Chinese family with X-linked dominant retinitis pigmentosa Chin. Zhonghua Yi Xue Yi Chuan Xue Za Zhi 2005; 22:396-398.
24. 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. A comprehensive mutation analysis of RP2 and RPGR in a North American cohort of families with X-linked retinitis pigmentosa. Am J Hum Genet 2002; 70:1545-1554.
25. Vervoort R, Wright AF. Mutations of RPGR in X-linked retinitis pigmentosa (RP3). Hum Mutat 2002; 19:486-500.
26. Bader I, Brandau O, Achatz H, Apfelstedt-Sylla E, Hergersberg M, Lorenz B, Wissinger B, Wittwer B, Rudolph G, Meindl A, Meitinger T. 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. Invest Ophthalmol Vis Sci 2003; 44:1458-1463.
27. Pelletier V, Jambou M, Delphin N, Zinovieva E, Stum M, Gigarel N, Dollfus H, Hamel C, Toutain A, Dufier JL, Roche O, Munnich A, Bonnefont JP, Kaplan J, Rozet JM. Comprehensive survey of mutations in RP2 and RPGR in patients affected with distinct retinal dystrophies: genotypephenotype correlations and impact on genetic counseling. Hum Mutat 2007; 28:81-91.
28. Sharon D, Sandberg MA, Rabe VW, Stillberger M, Dryja TP, Berson EL. RP2 and RPGR Mutations and Clinical Correlations in Patients with X-Linked Retinitis Pigmentosa. Am J Hum Genet 2003; 73:1131-1146.
29. Jin Z-B, Hayakawa M, Murakami A, Nao-i N. Rcc1-like domain and ORF15: essentials in RPGR gene. In: Hollyfield JG, Anderson RE, LaVail MM, editors. Retinal Degenerative Diseases. New York, NY: Springer; 2006.
30. Flaxel CJ, Jay M, Thiselton DL, Nayudu M, Hardcastle AJ, Wright A, Bird AC. Difference between RP2 and RP3 phenotypes in X linked retinitis pigmentosa. Br J Ophthalmol 1999; 83:1144-1148.
31. Sharon D, Bruns G, McGee T, Sandberg M, Berson E, Dryja T. X-linked retinitis pigmentosa: mutation spectrum of the RPGR and RP2 genes and correlation with visual function. Invest Ophthalmol Vis Sci 2000; 419:2712-2721.
32. Andréasson S, Breuer DK, Eksandh L, Ponjavic V, Frennesson C, Hiriyanna S, Filippova E, Yashar BM, Swaroop A. Clinical studies of X-linked retinitis pigmentosa in three Swedish families with newly identified mutations in the RP2 and RPGR-ORF15 genes. Ophthalmic Genet 2003; 24:215-223.
33. Walia S, Fishman GA, Swaroop A, Branham KE, Lindeman M, Othman M, Weleber RG. Discordant phenotypes in fraternal twins having an identical mutation in exon ORF15 of the RPGR gene. Arch Ophthalmol 2008; 126:379-384.
34. Fishman GA, Weinberg AB, McMahon TT. X-linked recessive retinitis pigmentosa: clinical characteristics of carriers. Arch Ophthalmol 1986; 104:1329-1335.
35. Grover S, Fishman GA, Anderson RJ, Lindeman M. A longitudinal study of visual function in carriers of X-linked recessive retinitis pigmentosa. Ophthalmol. 2000; 107:386-396.
36. Fishman GA, Grover S, Buraczynska M, Wu W, Swaroop A. A new 2-base pair deletion in the RPGR gene in a black family with X-linked retinitis pigmentosa. Arch Ophthal 1998; 116:213-218.
37. Fishman GA, Grover S, Jacobson SG, Alexander KR, Derlacki DJ, Wu W, Buraczynska M, Swaroop A. X-linked retinitis pigmentosa in two families with a missense mutation in the RPGR gene and putative change of glycine to valine at codon 60. Ophthalmology 1998; 105:2286-2296.
38. Jacobson SG, Buraczynska M, Milam AH, Chen C, Järvaläinen M, Fujita R, Wu W, Huang Y, Cideciyan AV, Swaroop A. Disease expression in X-linked retinitis pigmentosa caused by a putative null mutation in the RPGR gene. Invest Ophthalmol Vis Sci 1997; 38:1983-1997.
39. Souied E, Segues B, Ghazi I, Rozet JM, Chatelin S, Gerber S, Perrault I, Michel-Awad A, Briard ML, Plessis G, Dufier JL, Munnich A, Kaplan J. Severe manifestations in carrier females in X linked retinitis pigmentosa. J Med Genet 1997; 34:793-797.