A novel homozygous R764H mutation in crumbs homolog 1 causes autosomal recessive retinitis pigmentosa

Molecular Vision

Volumn 19, Issue , 2013, Pages 829-834

  Tiab, Leila ^a   Largueche, Leila ^b,c   Chouchane, Ibtissem ^b   Derouiche, Kaouthar ^b   Munier, Francis L ^a,d   Matri, Leila El ^b,c   Schorderet, Daniel F ^a,d,e  

^a Institute for Research in Ophthalmology IRO   (Switzerland)

^b Institut Hedi Rais d'Ophtalmologie   (Tunisia)

^c UNIVERSITY OF TUNIS EL MANAR   (Tunisia)

^d UNIVERSITY OF LAUSANNE   (Switzerland)

^e EPFL   (Switzerland)

Author keywords

[No Author keywords available]

Indexed keywords

HISTIDINE;

ADOLESCENT; ADULT; AGED; AMINO ACID SUBSTITUTION; ARTICLE; AUTOSOMAL RECESSIVE INHERITANCE; CHILD; CHROMOSOME 1Q; CONTROLLED STUDY; CRB1 GENE; EXON; FAMILY STUDY; FEMALE; GENE; GENE LOCUS; GENE MUTATION; GENOTYPE; HAPLOTYPE; HOMOZYGOSITY; HUMAN; INTRON; MAJOR CLINICAL STUDY; MALE; MICROSATELLITE MARKER; MISSENSE MUTATION; MUTATIONAL ANALYSIS; PATHOGENESIS; PRIORITY JOURNAL; RETINITIS PIGMENTOSA; SCHOOL CHILD;

ADULT; AMINO ACID SEQUENCE; AMINO ACID SUBSTITUTION; ELECTROPHORESIS, AGAR GEL; EXONS; EYE PROTEINS; FEMALE; FUNDUS OCULI; GENES, RECESSIVE; GENETIC PREDISPOSITION TO DISEASE; HOMOZYGOTE; HUMANS; MALE; MEMBRANE PROTEINS; MOLECULAR SEQUENCE DATA; MUTATION; NERVE TISSUE PROTEINS; PEDIGREE; RETINITIS PIGMENTOSA; SEQUENCE ALIGNMENT;

EID: 84876214478     PISSN: None     EISSN: 10900535     Source Type: Journal    
DOI: None     Document Type: Article

References (20)

1. Hartong DT, Berson EL, Dryja TP. Retinitis pigmentosa. Lancet 2006; 368:1795-809. [PMID: 17113430].
2. Bunker CH, Berson EL, Bromley WC, Hayes RP, Roderick TH. Prevalence of retinitis pigmentosa in Maine. Am J Ophthalmol 1984; 97:357-65. [PMID: 6702974].
3. den Hollander AI, ten Brink JB, de Kok YJ, van Soest S, van den Born LI, van Driel MA, van de Pol DJ, Payne AM, Bhattacharya SS, Kellner U, Hoyng CB, Westerveld A, Brunner HG, Bleeker-Wagemakers EM, Deutman AF, Heckenlively JR, Cremers FP, Bergen AA. Mutations in a human homologue of Drosophila crumbs cause retinitis pigmentosa (RP12). Nat Genet 1999; 23:217-21. [PMID: 10508521].
4. Lotery AJ, Malik A, Shami SA, Sindhi M, Chohan B, Maqbool C, Moore PA, Denton MJ, Stone EM. CRB1 mutations may result in retinitis pigmentosa without para-arteriolar RPE preservation. Ophthalmic Genet 2001; 22:163-9. [PMID: 11559858].
5. Tepass U. Adherens junctions: new insight into assembly, modulation and function. Bioessays 2002; 24:690-5. [PMID: 12210528].
6. Pellikka M, Tanentzapf G, Pinto M, Smith C, McGlade CJ, Ready DF, Tepass U. Crumbs, the Drosophila homologue of human CRB1/RP12, is essential for photoreceptor morphogenesis. Nature 2002; 416:143-9. [PMID: 11850625].
7. Lotery AJ, Jacobson SG, Fishman GA, Weleber RG, Fulton AB, Namperumalsamy P, Héon E, Levin AV, Grover S, Rosenow JR, Kopp KK, Sheffield VC, Stone EM. Mutations in the CRB1 gene cause Leber congenital amaurosis. Arch Ophthalmol 2001; 119:415-20. [PMID: 11231775].
8. Hanein S, Perrault I, Gerber S, Tanguy G, Barbet F, Ducroq D, Calvas P, Dollfus H, Hamel C, Lopponen T, Munier F, Santos L, Shalev S, Zafeiriou D, Dufier JL, Munnich A, Rozet JM, Kaplan J. Leber congenital amaurosis: comprehensive survey of the genetic heterogeneity, refinement of the clinical definition, and genotype-phenotype correlations as a strategy for molecular diagnosis. Hum Mutat 2004; 23:306-17. [PMID: 15024725].
9. den Hollander AI, Davis J, van der Velde-Visser SD, Zonneveld MN, Pierrottet CO, Koenekoop RK, Kellner U, van den Born LI, Heckenlively JR, Hoyng CB, Handford PA, Roepman R, Cremers FP. CRB1 mutation spectrum in inherited retinal dystrophies. Hum Mutat 2004; 24:355-69. [PMID: 15459956].
10. Khan JA, Ide CH, Strickland MP. Coats-type retinitis pigmentosa. Surv Ophthalmol 1988; 32:317-32. [PMID: 2457260].
11. den Hollander AI, Heckenlively JR, van den Born LI, de Kok YJM, van der Velde-Visser SD, Kellner U, Jurklies B, van Schooneveld MJ, Blankenagel A, Rohrschneider K, Wissinger B, Cruysberg JRM, Deutman AF, Brunner HG, Apfelstedt-Sylla E, Hoyng CB, Cremers FP. Leber congenital amaurosis and retinitis pigmentosa with Coats-like exudative vasculopathy are associated with mutations in the Crumbs homologue 1 (CRB1) gene. Am J Hum Genet 2001; 69:198-203. [PMID: 11389483].
12. den Hollander AI, Johnson K, de Kok YJ, Klebes A, Brunner HG, Knust E, Cremers FP. CRB1 has a cytoplasmic domain that is functionally conserved between human and Drosophila. Hum Mol Genet 2001; 10:2767-73. [PMID: 11734541].
13. Richard M, Muschalik N, Grawe F, Ozüyaman S, Knust E. A role for the extracellular domain of Crumbs in morphogenesis of Drosophila photoreceptor cells. Eur J Cell Biol 2009; 88:765-77. [PMID: 19717208].
14. Bujakowska K, Audo I, Mohand-Saïd S, Lancelot ME, Antonio A, Germain A, Léveillard T, Letexier M, Saraiva JP, Lonjou C, Carpentier W, Sahel JA, Bhattacharya SS, Zeitz C. CRB1 mutations in inherited retinal dystrophies. Hum Mutat 2012; 33:306-15. [PMID: 22065545].
15. Vuolteenaho R, Chow LT. Tryggvason k. Structure of the human laminin B1 chain gene. J Biol Chem 1990; 265:15611-6. [PMID: 1975589].
16. Beckmann G, Hanke J, Bork P, Reich JG. Merging extracellular domains: fold prediction for laminin G-like and N-terminal thrombopondin-like modules based on homology to pentraxins. J Mol Biol 1998; 275:725-30. [PMID: 9480764].
17. Tisi D, Talts TF, Timp R, Hohenester E. Structure of the C-terminal laminin G-like domain pair of the laminin alpha 2 chain harbouring binding sites for alpha-dysglycan and heparin. EMBO J 2000; 19:1432-40. [PMID: 10747011].
18. Richard M, Roepman R, Aartsen WM, van Rossum AG, den Hollander AI, Knust E, Wijnholds J, Cremers FP. Towards understanding CRUMBS function in retinal dystrophies. Hum Mol Genet 2006; 15:R235-43. Review[PMID: 16987889].
19. Roh MH, Makarova O, Liu CJ, Shin K, Lee S, Laurinec S, Goyal M, Wiggins R, Margolis B. The Maguk protein Pals1 functions as an adapter, linking mammalian homologues of Crumbs and Discs Lost. J Cell Biol 2002; 157:161-72. [PMID: 11927608].
20. Henderson RH, Mackay DS, Li Z, Moradi P, Sergouniotis P, Russell-Eggitt I, Thompson DA, Robson AG, Holder GE, Webster AR, Moore AT. Phenotypic variability in patients with retinal dystrophies due to mutations in CRB1. Br J Ophthalmol 2011; 95:811-7. [PMID: 20956273].