Novel mutations in RDH5 cause fundus albipunctatus in two consanguineous Pakistani families

Molecular Vision

Volumn 18, Issue , 2012, Pages 1558-1571

  Ajmal, Muhammad ^a,b,c   Khan, Muhammad Imran ^a,b   Neveling, Kornelia ^b   Khan, Yar Muhammad ^a,d   Ali, Syeda Hafiza Benish ^a   Ahmed, Waqas ^a   Iqbal, Muhammad Safdar ^e   Azam, Maleeha ^a,b   den Hollander, Anneke I ^b,f   Collin, Rob W J ^b,f   Qamar, Raheel ^a,c   Cremers, Frans P M ^a,b,f  

^a Department of Electrical Computer Engineering   (Pakistan)

^b RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^c SHIFA COLLEGE OF MEDICINE   (Pakistan)

^d UNIVERSITY OF SCIENCE AND TECHNOLOGY   (Pakistan)

^e NISHTAR HOSPITAL   (Pakistan)

^f RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

Author keywords

[No Author keywords available]

Indexed keywords

ADOLESCENT; ADULT; ARTICLE; CASE REPORT; CHILD; CHROMOSOME 10; CHROMOSOME 12; CHROMOSOME 8; CONSANGUINITY; EYE FUNDUS ALBIPUNCTATUS; FAMILIAL DISEASE; GENE; GENE DELETION; GENE MUTATION; GENETIC RISK; HOMOZYGOSITY; HUMAN; MISSENSE MUTATION; PAKISTAN; PRIORITY JOURNAL; RDH5 GENE; SCHOOL CHILD; SEQUENCE ANALYSIS;

ADOLESCENT; ADULT; ALCOHOL OXIDOREDUCTASES; ASIAN CONTINENTAL ANCESTRY GROUP; BASE SEQUENCE; CHILD; CHROMOSOMES, HUMAN, PAIR 12; CONSANGUINITY; FEMALE; FUNDUS OCULI; GENOME-WIDE ASSOCIATION STUDY; GENOTYPE; HOMOZYGOTE; HUMANS; MALE; MOLECULAR SEQUENCE DATA; MUTATION, MISSENSE; MYOPIA; NIGHT BLINDNESS; PAKISTAN; PEDIGREE; POLYMORPHISM, SINGLE NUCLEOTIDE; SEQUENCE DELETION;

EID: 84863316961     PISSN: None     EISSN: 10900535     Source Type: Journal    
DOI: None     Document Type: Article

References (63)

1. Lauber H. Die sogenannte Retinitis Punctata Albescens. Klin Monatsbl Augenheilkd 1910; 48:133-48.
2. Traboulsi EI, Leroy BP, Zeitz C. Congenital stationary night blindness. In: Traboulsi EI, editor. Genetic diseases of the eye. New York: Oxford University Press; 2012. p. 476-83.
3. Krill AE. Fleck retina diseases. In: Krill AE, Archer DB, editors. Hereditary retinal and choroidal diseases. Philadelphia: Harper and Row; 1977. p. 739-824.
4. Marmor MF. Long-term follow-up of the physiologic abnormalities and fundus changes in fundus albipunctatus. Ophthalmology 1990; 97:380-4. [PMID: 2336278]
5. Gass JDM. Stereoscopic atlas of macular diseases: diagnosis and treatment. 4th ed. St. Louis: Mosby; 1997. p. 350-1.
6. Kranias G, Augsburger JJ, Raymond LA. Resolution of night blindness in fundus albipunctatus. Ann Ophthalmol 1981; 13:871-4. [PMID: 6975055]
7. Yamamoto H, Simon A, Eriksson U, Harris E, Berson EL, Dryja TP. Mutations in the gene encoding 11-cis retinol dehydrogenase cause delayed dark adaptation and fundus albipunctatus. Nat Genet 1999; 22:188-91. [PMID: 10369264]
8. Katsanis N, Shroyer NF, Lewis RA, Cavender JC, Al-Rajhi AA, Jabak M, Lupski JR. Fundus albipunctatus and retinitis punctata albescens in a pedigree with an R150Q mutation in RLBP1. Clin Genet 2001; 59:424-9. [PMID: 11453974]
9. Naz S, Ali S, Riazuddin SA, Farooq T, Butt NH, Zafar AU, Khan SN, Husnain T, MacDonald IM, Sieving PA, Hejtmancik JF, Riazuddin S. Mutations in RLBP1 associated with fundus albipunctatus in consanguineous Pakistani families. Br J Ophthalmol 2011; 95:1019-24. [PMID: 21447491]
10. Schatz P, Preising M, Lorenz B, Sander B, Larsen M, Rosenberg T. Fundus albipunctatus associated with compound heterozygous mutations in RPE65. Ophthalmology 2011; 118:888-94. [PMID: 21211845]
11. Simon A, Hellman U, Wernstedt C, Eriksson U. The retinal pigment epithelial-specific 11-cis retinol dehydrogenase belongs to the family of short chain alcohol dehydrogenases. J Biol Chem 1995; 270:1107-12. [PMID: 7836368]
12. Okada T, Ernst OP, Palczewski K, Hofmann KP. Activation of rhodopsin: new insights from structural and biochemical studies. Trends Biochem Sci 2001; 26:318-24. [PMID: 11343925]
13. McBee JK, Palczewski K, Baehr W, Pepperberg DR. Confronting complexity: the interlink of phototransduction and retinoid metabolism in the vertebrate retina. Prog Retin Eye Res 2001; 20:469-529. [PMID: 11390257]
14. Parker RO, Crouch RK. Retinol dehydrogenases (RDHs) in the visual cycle. Exp Eye Res 2010; 91:788-92. [PMID: 20801113]
15. Simon A, Lagercrantz J, Bajalica-Lagercrantz S, Eriksson U. Primary structure of human 11-cis retinol dehydrogenase and organization and chromosomal localization of the corresponding gene. Genomics 1996; 36:424-30. [PMID: 8884265]
16. Simon A, Romert A, Gustafson AL, McCaffery JM, Eriksson U. Intracellular localization and membrane topology of 11-cis retinol dehydrogenase in the retinal pigment epithelium suggest a compartmentalized synthesis of 11-cis retinaldehyde. J Cell Sci 1999; 112:549-58. [PMID: 9914166]
17. Farjo KM, Moiseyev G, Takahashi Y, Crouch RK, Ma JX. The 11-cis-retinol dehydrogenase activity of RDH10 and its interaction with visual cycle proteins. Invest Ophthalmol Vis Sci 2009; 50:5089-97. [PMID: 19458327]
18. Mata NL, Radu RA, Clemmons RC, Travis GH. Isomerization and oxidation of vitamin a in cone-dominant retinas: a novel pathway for visual-pigment regeneration in daylight. Neuron 2002; 36:69-80. [PMID: 12367507]
19. Jang GF, Van Hooser JP, Kuksa V, McBee JK, He YG, Janssen JJM, Driessen CAGG, Palczewski K. Characterization of a dehydrogenase activity responsible for oxidation of 11-cisretinol in the retinal pigment epithelium of mice with a disrupted RDH5 gene. A model for the human hereditary disease fundus albipunctatus. J Biol Chem 2001; 276:32456-65. [PMID: 11418621]
20. Driessen CAGG, Winkens HJ, Hoffmann K, Kuhlmann LD, Janssen BPM, Van Vugt AHM, Van Hooser JP, Wieringa BE, Deutman AF, Palczewski K, Ruether K, Janssen JJM. Disruption of the 11-cis-retinol dehydrogenase gene leads to accumulation of cis-retinols and cis-retinyl esters. Mol Cell Biol 2000; 20:4275-87. [PMID: 10825191]
21. Sambrook J, Russell DW. The condensed protocols from Molecular cloning: a laboratory manual. Cold Spring Harbor (NY): Cold Spring Harbor Laboratory Press; 2006.
22. Thiele H, Nürnberg P. HaploPainter: a tool for drawing pedigrees with complex haplotypes. Bioinformatics 2005; 21:1730-2. [PMID: 15377505]
23. Seelow D, Schuelke M, Hildebrandt F, Nurnberg P. HomozygosityMapper-an interactive approach to homozygosity mapping. Nucleic Acids Res 2009; 37:W593-9. [PMID: 19465395]
24. Rozen S, Skaletsky H. Primer3 on the WWW for general users and for biologist programmers. Methods Mol Biol 2000; 132:365-86. [PMID: 10547847]
25. Schwarz JM, Rodelsperger C, Schuelke M, Seelow D. MutationTaster evaluates disease-causing potential of sequence alterations. Nat Methods 2010; 7:575-6. [PMID: 20676075]
26. Venselaar H, Te Beek TA, Kuipers RK, Hekkelman ML, Vriend G. Protein structure analysis of mutations causing inheritable diseases. An e-Science approach with life scientist friendly interfaces. BMC Bioinformatics 2010; 11:548. [PMID: 21059217]
27. Gonzalez-Fernandez F, Kurz D, Bao Y, Newman S, Conway BP, Young JE, Han DP, Khani SC. 11-cis retinol dehydrogenase mutations as a major cause of the congenital night-blindness disorder known as fundus albipunctatus. Mol Vis 1999; 5:41. [PMID: 10617778]
28. Hirose E, Inoue Y, Morimura H, Okamoto N, Fukuda M, Yamamoto S, Fujikado T, Tano Y. Mutations in the 11-cis retinol dehydrogenase gene in Japanese patients with fundus albipunctatus. Invest Ophthalmol Vis Sci 2000; 41:3933-5. [PMID: 11053296]
29. Kuroiwa S, Kikuchi T, Yoshimura N. A novel compound heterozygous mutation in the RDH5 gene in a patient with fundus albipunctatus. Am J Ophthalmol 2000; 130:672-5. [PMID: 11078852]
30. Nakamura M, Hotta Y, Tanikawa A, Terasaki H, Miyake Y. A high association with cone dystrophy in fundus albipunctatus caused by mutations of the RDH5 gene. Invest Ophthalmol Vis Sci 2000; 41:3925-32. [PMID: 11053295]
31. Wada Y, Abe T, Fuse N, Tamai M. A frequent 1085delC/ insGAAG mutation in the RDH5 gene in Japanese patients with fundus albipunctatus. Invest Ophthalmol Vis Sci 2000; 41:1894-7. [PMID: 10845614]
32. Wada Y, Abe T, Sato H, Tamai M. A novel Gly35Ser mutation in the RDH5 gene in a Japanese family with fundus albipunctatus associated with cone dystrophy. Arch Ophthalmol 2001; 119:1059-63. [PMID: 11448328]
33. Driessen CAGG, Janssen BPM, Winkens HJ, Kuhlmann LD, Van Vugt AHM, Pinckers AJLG, Deutman AF, Janssen JJM. Null mutation in the human 11-cis retinol dehydrogenase gene associated with fundus albipunctatus. Ophthalmology 2001; 108:1479-84. [PMID: 11470705]
34. Nakamura M, Miyake Y. Macular dystrophy in a 9-year-old boy with fundus albipunctatus. Am J Ophthalmol 2002; 133:278-80. [PMID: 11812441]
35. Hotta K, Nakamura M, Kondo M, Ito S, Terasaki H, Miyake Y, Hida T. Macular dystrophy in a Japanese family with fundus albipunctatus. Am J Ophthalmol 2003; 135:917-9. [PMID: 12788147]
36. Yamamoto H, Yakushijin K, Kusuhara S, Escano MF, Nagai A, Negi A. A novel RDH5 gene mutation in a patient with fundus albipunctatus presenting with macular atrophy and fading white dots. Am J Ophthalmol 2003; 136:572-4. [PMID: 12967826]
37. Nakamura M, Skalet J, Miyake Y. RDH5 gene mutations and electroretinogram in fundus albipunctatus with or without macular dystrophy: RDH5 mutations and ERG in fundus albipunctatus. Doc Ophthalmol 2003; 107:3-11. [PMID: 12906118]
38. Nakamura M, Lin J, Miyake Y. Young monozygotic twin sisters with fundus albipunctatus and cone dystrophy. Arch Ophthalmol 2004; 122:1203-7. [PMID: 15302662]
39. Rüther K, Janssen BPM, Kellner U, Janssen JJM, Bohne M, Reimann J, Driessen CAGG. Klinische und moleculargenetische Befunde bei einer Patientin mit Fundus Albipunctatus. Ophthalmologe 2004; 101:177-85. [PMID: 14991316]
40. Sato M, Oshika T, Kaji Y, Nose H. A novel homozygous Gly107Arg mutation in the RDH5 gene in a Japanese patient with fundus albipunctatus with sectorial retinitis pigmentosa. Ophthalmic Res 2004; 36:43-50. [PMID: 15007239]
41. Niwa Y, Kondo M, Ueno S, Nakamura M, Terasaki H, Miyake Y. Cone and rod dysfunction in fundus albipunctatus with RDH5 mutation: an electrophysiological study. Invest Ophthalmol Vis Sci 2005; 46:1480-5. [PMID: 15790919]
42. Hayashi T, Goto-Omoto S, Takeuchi T, Gekka T, Ueoka Y, Kitahara K. Compound heterozygous RDH5 mutations in familial fleck retina with night blindness. Acta Ophthalmol Scand 2006; 84:254-8. [PMID: 16637847]
43. Iannaccone A, Tedesco SA, Gallaher KT, Yamamoto H, Charles S, Dryja TP. Fundus albipunctatus in a 6-year old girl due to compound heterozygous mutations in the RDH5 gene. Doc Ophthalmol 2007; 115:111-6. [PMID: 17476461]
44. Wang C, Nakanishi N, Ohishi K, Hikoya A, Koide K, Sato M, Nakamura M, Hotta Y, Minoshima S. Novel RDH5 mutation in family with mother having fundus albipunctatus and three children with retinitis pigmentosa. Ophthalmic Genet 2008; 29:29-32. [PMID: 18363170]
45. Hajali M, Fishman GA, Dryja TP, Sweeney MO, Lindeman M. Diagnosis in a patient with fundus albipunctatus and atypical fundus changes. Doc Ophthalmol 2009; 118:233-8. [PMID: 18949499]
46. Querques G, Carrillo P, Querques L, Bux AV, Del Curatolo MV, Delle NN. High-definition optical coherence tomographic visualization of photoreceptor layer and retinal flecks in fundus albipunctatus associated with cone dystrophy. Arch Ophthalmol 2009; 127:703-6. [PMID: 19433727]
47. Schatz P, Preising M, Lorenz B, Sander B, Larsen M, Eckstein C, Rosenberg T. Lack of autofluorescence in fundus albipunctatus associated with mutations in RDH5. Retina 2010; 30:1704-13. [PMID: 20829743]
48. Sergouniotis PI, Sohn EH, Li Z, McBain VA, Wright GA, Moore AT, Robson AG, Holder GE, Webster AR. Phenotypic variability in RDH5 retinopathy (Fundus Albipunctatus). Ophthalmology 2011; 118:1661-70. [PMID: 21529959]
49. Belyaeva OV, Stetsenko AV, Nelson P, Kedishvili NY. Properties of short-chain dehydrogenase/reductase RalR1: characterization of purified enzyme, its orientation in the microsomal membrane, and distribution in human tissues and cell lines. Biochemistry 2003; 42:14838-45. [PMID: 14674758]
50. Zhang M, Hu P, Napoli JL. Elements in the N-terminal signaling sequence that determine cytosolic topology of short-chain dehydrogenases/reductases. Studies with retinol dehydrogenase type 1 and cis-retinol/androgen dehydrogenase type 1. J Biol Chem 2004; 279:51482-9. [PMID: 15355969]
51. Lidén M, Tryggvason K, Eriksson U. The C-terminal region of cis-retinol/androgen dehydrogenase 1 (CRAD1) confers ER localization and in vivo enzymatic function. Exp Cell Res 2005; 311:205-17. [PMID: 16223484]
52. Kubota H. Quality control against misfolded proteins in the cytosol: a network for cell survival. J Biochem 2009; 146:609-16. [PMID: 19737776]
53. Zhang X, Qian SB. Chaperone-mediated hierarchical control in targeting misfolded proteins to aggresomes. Mol Biol Cell 2011; 22:3277-88. [PMID: 21775628]
54. Chen B, Retzlaff M, Roos T, Frydman J. Cellular strategies of protein quality control. Cold Spring Harb Perspect Biol 2011; 3:a004374. [PMID: 21746797]
55. Maeda A, Maeda T, Palczewski K. Improvement in rod and cone function in mouse model of Fundus albipunctatus after pharmacologic treatment with 9-cis-retinal. Invest Ophthalmol Vis Sci 2006; 47:4540-6. [PMID: 17003450]
56. Rotenstreich Y, Harats D, Shaish A, Pras E, Belkin M. Treatment of a retinal dystrophy, fundus albipunctatus, with oral 9-cis-β-carotene. Br J Ophthalmol 2010; 94:616-21. [PMID: 19955196]
57. Nagao A, Olson JA. Enzymatic formation of 9-cis, 13-cis, and all-trans retinals from isomers of beta-carotene. FASEB J 1994; 8:968-73. [PMID: 8088462]
58. Hébuterne X, Wang XD, Johnson EJ, Krinsky NI, Russell RM. Intestinal absorption and metabolism of 9-cis-β-carotene in vivo: biosynthesis of 9-cis-retinoic acid. J Lipid Res 1995; 36:1264-73. [PMID: 7666004]
59. Urbach J, Rando RR. Isomerization of all-trans-retinoic acid to 9-cis-retinoic acid. Biochem J 1994; 299:459-65. [PMID: 8172607]
60. Radu RA, Mata NL, Nusinowitz S, Liu X, Sieving PA, Travis GH. Treatment with isotretinoin inhibits lipofuscin accumulation in a mouse model of recessive Stargardt's macular degeneration. Proc Natl Acad Sci USA 2003; 100:4742-7. [PMID: 12671074]
61. Radu RA, Han Y, Bui TV, Nusinowitz S, Bok D, Lichter J, Widder K, Travis GH, Mata NL. Reductions in serum vitamin A arrest accumulation of toxic retinal fluorophores: a potential therapy for treatment of lipofuscin-based retinal diseases. Invest Ophthalmol Vis Sci 2005; 46:4393-401. [PMID: 16303925]
62. Mertz JR, Shang E, Piantedosi R, Wei S, Wolgemuth DJ, Blaner WS. Identification and characterization of a stereospecific human enzyme that catalyzes 9-cis-retinol oxidation. A possible role in 9-cis-retinoic acid formation. J Biol Chem 1997; 272:11744-9. [PMID: 9115228]
63. Heyman RA, Mangelsdorf DJ, Dyck JA, Stein RB, Eichele G, Evans RM, Thaller C. 9-cis retinoic acid is a high affinity ligand for the retinoid X receptor. Cell 1992; 68:397-406. [PMID: 1310260]