Polymorphic variation of RPGRIP1L and IQCB1 as modifiers of X-linked retinitis pigmentosa caused by mutations in RPGR

Advances in Experimental Medicine and Biology

Volumn 723, Issue , 2012, Pages 313-320

  Fahim, Abigail T ^a   Bowne, Sara J ^a   Sullivan, Lori S ^a   Webb, Kaylie D ^b   Williams, Jessica T ^a   Wheaton, Dianna K ^b,c   Birch, David G ^b,c   Daiger, Stephen P ^a  

^a UNIVERSITY OF TEXAS SCHOOL OF PUBLIC HEALTH   (United States)

^b RETINA FOUNDATION OF THE SOUTHWEST   (United States)

^c UNIVERSITY OF TEXAS SOUTHWESTERN MEDICAL CENTER   (United States)

Author keywords

Ciliopathy; Genetic Modifier; Retinal Degeneration; Retinitis Pigmentosa; RPGR

Indexed keywords

ARGININE; ASPARAGINE; GENOMIC DNA; GLUTAMINE; ISOLEUCINE; PROTEIN IQ MOTIF CONTAINING B1; PROTEIN IQCB1; PROTEIN RPGR; REGULATOR PROTEIN; RETINITIS PIGMENTOSA GTPASE REGULATOR PROTEIN; UNCLASSIFIED DRUG; VISUAL PIGMENT;

ADULT; CEP290 GENE; COHORT ANALYSIS; CONFERENCE PAPER; CONTROLLED STUDY; DISEASE SEVERITY; DNA DETERMINATION; FAMILY STUDY; FEMALE; GENE FREQUENCY; GENE INTERACTION; GENE MUTATION; GENETIC ASSOCIATION; GENETIC CODE; GENETIC VARIABILITY; GENOTYPE; HUMAN; MAJOR CLINICAL STUDY; MALE; MODIFIER GENE; NPHP5 GENE; PRIORITY JOURNAL; RETINITIS PIGMENTOSA; RPGRIP1 GENE; RPGRIP1L GENE; SINGLE NUCLEOTIDE POLYMORPHISM;

ADAPTOR PROTEINS, SIGNAL TRANSDUCING; CALMODULIN-BINDING PROTEINS; CHROMOSOMES, HUMAN, X; EYE PROTEINS; FAMILY HEALTH; GENOTYPE; HUMANS; MALE; PEDIGREE; PHENOTYPE; POLYMORPHISM, SINGLE NUCLEOTIDE; RETINITIS PIGMENTOSA; SEVERITY OF ILLNESS INDEX;

EID: 84862964662     PISSN: 00652598     EISSN: None     Source Type: Book Series    
DOI: 10.1007/978-1-4614-0631-0_41     Document Type: Conference Paper

References (29)

1. Adzhubei IA, Schmidt S, Peshkin L et al (2010) A method and server for predicting damaging missense mutations. Nat Methods 7: 248-249
2. Arts HH, Doherty D, van Beersum SE et al (2007) Mutations in the gene encoding the basal body protein RPGRIP1L, a nephrocystin-4 interactor, cause Joubert syndrome. Nat Genet 39: 882-888 (Pubitemid 47014499)
3. Ayyagari R, Demirci FY, Liu J et al (2002) X-linked recessive atrophic macular degeneration from RPGR mutation. Genomics 80: 166-171 (Pubitemid 36197959)
4. Baala L, Audollent S, Martinovic J et al (2007) Pleiotropic effects of CEP290 (NPHP6) mutations extend to Meckel syndrome. Am J Hum Genet 81: 170-179 (Pubitemid 47001167)
5. Berson EL (2007) Long-term visual prognoses in patients with retinitis pigmentosa: the Ludwig von Sallmann lecture. Exp Eye Res 85: 7-14 (Pubitemid 47017263)
6. Berson EL, Sandberg MA, Rosner B et al (1985) Natural course of retinitis pigmentosa over a three-year interval. Am J Ophthalmol 99: 240-251 (Pubitemid 15143427)
7. Birch DG, Anderson JL, Fish GE (1999) Yearly rates of rod and cone functional loss in retinitis pigmentosa and cone-rod dystrophy. Ophthalmology 106: 258-268 (Pubitemid 30191621)
8. Boylan JP, Wright AF (2000) Identifi cation of a novel protein interacting with RPGR. Hum Mol Genet 9: 2085-2093
9. Chen TY, Illing M, Molday LL et al (1994) Subunit 2 (or beta) of retinal rod cGMP-gated cation channel is a component of the 240-kDa channel-associated protein and mediates Ca(2+)- calmodulin modulation. Proc Natl Acad Sci USA 91: 11757-11761
10. Delous M, Baala L, Salomon R et al (2007) The ciliary gene RPGRIP1L is mutated in cerebellooculo- renal syndrome (Joubert syndrome type B) and Meckel syndrome. Nat Genet 39: 875-881 (Pubitemid 47014487)
11. Demirci FY, Rigatti BW, Wen G et al (2002) X-linked cone-rod dystrophy (locus COD1): identifi cation of mutations in RPGR exon ORF15. Am J Hum Genet 70: 1049-1053 (Pubitemid 34259324)
12. den Hollander AI, Koenekoop RK, Yzer S et al (2006) Mutations in the CEP290 (NPHP6) gene are a frequent cause of Leber congenital amaurosis. Am J Hum Genet 79: 556-561 (Pubitemid 44384265)
13. Dryja TP, Adams SM, Grimsby JL et al (2001) Null RPGRIP1 alleles in patients with Leber congenital amaurosis. Am J Hum Genet 68: 1295-1298 (Pubitemid 32424429)
14. Grover S, Fishman GA, Anderson RJ et al (2000) A longitudinal study of visual function in carriers of X-linked recessive retinitis pigmentosa. Ophthalmology 107: 386-396 (Pubitemid 30191422)
15. Guo DC, Milewicz DM (2003) Methodology for using a universal primer to label amplifi ed DNA segments for molecular analysis. Biotechnol Lett 25: 2079-2083 (Pubitemid 38092565)
16. Hong DH, Pawlyk B, Sokolov M et al (2003) RPGR isoforms in photoreceptor connecting cilia and the transitional zone of motile cilia. Invest Ophthalmol Vis Sci 44: 2413-2421 (Pubitemid 36618396)
17. Keith CG, Denton MJ, Chen JD (1991) Clinical variability in a family with X-linked retinal dystrophy and the locus at the RP3 site. Ophthalmic Paediatr Genet 12: 91-98
18. Khanna H, Hurd TW, Lillo C et al (2005) RPGR-ORF15, which is mutated in retinitis pigmentosa, associates with SMC1, SMC3, and microtubule transport proteins. J Biol Chem 280: 33580-33587 (Pubitemid 41397159)
19. Khanna H, Davis EE, Murga-Zamalloa CA et al (2009) A common allele in RPGRIP1L is a modifi er of retinal degeneration in ciliopathies. Nat Genet 41: 739-745
20. Louie CM, Caridi G, Lopes VS et al (2010) AHI1 is required for photoreceptor outer segment development and is a modifi er for retinal degeneration in nephronophthisis. Nat Genet 42: 175-180
21. Murga-Zamalloa CA, Atkins SJ, Peranen J et al (2010) Interaction of retinitis pigmentosa GTPase regulator (RPGR) with RAB8A GTPase: implications for cilia dysfunction and photoreceptor degeneration. Hum Mol Genet 19: 3591-3598
22. Otto EA, Loeys B, Khanna H et al (2005) Nephrocystin-5, a ciliary IQ domain protein, is mutated in Senior-Loken syndrome and interacts with RPGR and calmodulin. Nat Genet 37: 282-288 (Pubitemid 41716255)
23. Purcell S, Neale B, Todd-Brown K et al (2007) PLINK: a tool set for whole-genome association and population-based linkage analyses. Am J Hum Genet 81: 559-575 (Pubitemid 47330214)
24. Roepman R, Bernoud-Hubac N, Schick DE et al (2000) The retinitis pigmentosa GTPase regulator (RPGR) interacts with novel transport-like proteins in the outer segments of rod photoreceptors. Hum Mol Genet 9: 2095-2105
25. Sayer JA, Otto EA, O'Toole JF et al (2006) The centrosomal protein nephrocystin-6 is mutated in Joubert syndrome and activates transcription factor ATF4. Nat Genet 38: 674-681 (Pubitemid 43927310)
26. Souied E, Segues B, Ghazi I et al (1997) Severe manifestations in carrier females in X linked retinitis pigmentosa. J Med Genet 34: 793-797 (Pubitemid 27417431)
27. Tory K, Lacoste T, Burglen L et al (2007) High NPHP1 and NPHP6 mutation rate in patients with Joubert syndrome and nephronophthisis: potential epistatic effect of NPHP6 and AHI1 mutations in patients with NPHP1 mutations. J Am Soc Nephrol 18: 1566-1575 (Pubitemid 46717524)
28. Walia S, Fishman GA, Swaroop A et al (2008) Discordant phenotypes in fraternal twins having an identical mutation in exon ORF15 of the RPGR gene. Arch Ophthalmol 126: 379-384 (Pubitemid 351398462)
29. Yang Z, Peachey NS, Moshfeghi DM et al (2002) Mutations in the RPGR gene cause X-linked cone dystrophy. Hum Mol Genet 11: 605-611 (Pubitemid 34257497)