Carrier of R14W in carbonic anhydrase IV presents Bothnia dystrophy phenotype caused by two allelic mutations in RLBP1

Investigative Ophthalmology and Visual Science

Volumn 49, Issue 7, 2008, Pages 3172-3177

  Köhn, Linda ^a   Burstedt, Marie S I ^a   Jonsson, Frida ^a   Kadzhaev, Konstantin ^a   Haamer, Eneli ^b   Sandgren, Ola ^a   Golovleva, Irina ^a,c  

^a UMEÅ UNIVERSITY   (Sweden)

^b Asper Biotech   (Estonia)

^c UMEÅ UNIVERSITY HOSPITAL   (Sweden)

Author keywords

[No Author keywords available]

Indexed keywords

CARBONATE DEHYDRATASE IV; 11 CIS RETINAL BINDING PROTEIN; 11-CIS-RETINAL-BINDING PROTEIN; ARGININE; CARRIER PROTEIN; CYTOSINE; THYMINE; TRYPTOPHAN;

ADULT; AGED; AMINO ACID SUBSTITUTION; ARTICLE; AUTOSOMAL DOMINANT INHERITANCE; AUTOSOMAL RECESSIVE DISORDER; BLOOD DONOR; BOTHNIA DYSTROPHY; CHILD; CLINICAL ARTICLE; CLINICAL EVALUATION; DENATURING HIGH PERFORMANCE LIQUID CHROMATOGRAPHY; DNA EXTRACTION; EYE EXAMINATION; FEMALE; GENE; GENE MUTATION; GENE SEQUENCE; GENETIC VARIABILITY; HETEROZYGOSITY; HUMAN; HUMAN CELL; MALE; PHENOTYPE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; RESTRICTION FRAGMENT LENGTH POLYMORPHISM; RETINA DYSTROPHY; RETINITIS PIGMENTOSA; RLBP1 GENE; SCHOOL CHILD; SEGREGATION ANALYSIS; ADOLESCENT; ALLELE; EYE FUNDUS; GENETICS; HETEROZYGOTE; HOMOZYGOTE; MIDDLE AGED; MUTATION; PATHOLOGY; PATHOPHYSIOLOGY; RECESSIVE GENE;

ADOLESCENT; ADULT; AGED; AGED, 80 AND OVER; ALLELES; AMINO ACID SUBSTITUTION; ARGININE; CARBONIC ANHYDRASE IV; CARRIER PROTEINS; CHILD; CYTOSINE; FEMALE; FUNDUS OCULI; GENES, RECESSIVE; HETEROZYGOTE; HOMOZYGOTE; HUMANS; MALE; MIDDLE AGED; MUTATION; PHENOTYPE; RETINITIS PIGMENTOSA; THYMINE; TRYPTOPHAN;

EID: 48249101247     PISSN: 01460404     EISSN: 15525783     Source Type: Journal    
DOI: 10.1167/iovs.07-1664     Document Type: Article

References (28)

1. Wang Q, Chen Q, Zhao K, Wang L, Wang L, Traboulsi EI. Update on the molecular genetics of retinitis pigmentosa. Ophthalmic Genet. 2001;22:133-154. (Pubitemid 34248301)
2. Daiger SP, Bowne SJ, Sullivan LS. Perspective on genes and mutations causing RP. Arch Ophthalmol. 2007;125:151-158.
3. Burstedt MSI, Sandgren O, Holmgren G, Forsman-Semb K. Bothnia dystrophy caused by mutation in the cellular retinaldehyde-binding protein gene (RLBP1) on chromosome 15q26. Invest Ophthalmol Vis Sci. 1999;40:995-1000. (Pubitemid 29153267)
4. Burstedt MSI, Forsman-Semb K, Golovleva I, Janunger T, Wachtmeister L, Sandgren O. Ocular phenotype of Bothnia dystrophy, an autosomal recessive retinitis pigmentosa associated with an P.R234W mutation in the RLBP1 gene. Arch Ophthalmol. 2001;119:260-267. (Pubitemid 32147935)
5. den Dunnen JT, Antonarakis SE. Mutation nomenclature extensions and suggestions to describe complex mutations: a discussion. Hum Mut. 2000;15:7-12. (Pubitemid 30036162)
6. Maw MA, Kennedy B, Knight A et al. Mutation of the gene encoding cellular retinaldehyde-binding protein in autosomal recessive retinitis pigmentosa. Nat Genet. 1997;17:198-200.
7. Katsanis N, Shroyer NF, Lewis RA. Fundus albipunctus and retinitis punctata albescens in a pedigree with an R150Q mutation in RLBP1. Clin Genet. 2001;59:424-429. (Pubitemid 32605809)
8. Morimura H, Berson EL, Dryja TP. Recessive mutations in the RLBP1 gene encoding cellular retinaldehyde-binding protein in a form of retinitis punctata albescens. Invest Ophthalmol Vis Sci. 1999;40:1000-1004. (Pubitemid 29153268)
9. Eichers ER, Green JS, Stockton DW, et al. Newfoundland rodcone dystrophy, an early-onset retinal dystrophy, is caused by splice-junction mutations in RLBP1. Am J Hum Genet. 2002;70:955-964. (Pubitemid 34259311)
10. Nakamura M, Lin J, Ito Y, Miyake Y. Novel mutation in RLBP1 gene in a Japanese patient with retinitis punctata albescens. Am J Ophthalmol. 2005;139:1133-1135. (Pubitemid 40813340)
11. Demirci FY, Rigatti BW, Mah TS, Gorin MB. A novel compound heterozygous mutation in the cellular retinaldehyde-binding protein gene (RLBP1) in a patient with retinitis punctata albescens. Am J Ophthalmol. 2004;138:171-173. (Pubitemid 38850279)
12. Fishman GA, Roberts MF, Derlacki DJ, et al. Novel mutations in the cellular retinaldehyde-binding protein gene (RLBP1) associated with retinitis punctata albescens: evidence of interfamilial genetic heterogeneity and fundus changes in heterozygotes. Arch Ophthalmol. 2004;122:70-75. (Pubitemid 38063608)
13. Humbert G, Delettre C, Senechal A, et al. Homozygous deletion related to Alu repeats in RLBP1 causes retinitis punctata albescens. Invest Ophthalmol Vis Sci. 2006;47:4719-4724. (Pubitemid 46586367)
14. Balciuniene J, Johansson K, Sandgren O, Wachtmeister L, Holmgren G, Forsman K. A gene for autosomal dominant progressive cone dystrophy (CORD5) maps to chromosome 17p12-p13. Genomics. 1995;30:281-286.
15. Pastinen T, Kurg A, Metspalu A, Peltonen L, Syvanen AC. Minisequencing: a specific tool for DNA analysis and diagnostics on oligonucleotide arrays. Genome Res. 1997;7:606-614. (Pubitemid 27313609)
16. Oefner PJ, Underhill PA. Comparative DNA sequencing by denaturing high performance liquid chromatography (DHPLC). Am J Hum Genet. 1995;57:A266.
17. Oefner PJ, Underhill PA. DNA mutation detection using denaturing high-performance liquid chromatography (DHPLC). Current Protocols in Human Genetics, Supplement 19. New York: Wiley & Sons: 1998:7.10.1-12.
18. Kuklin A, Munson K, Gjerde D, Haefele R, Taylor P. Detection of single-nucleotide polymorphisms with the WAVE™ DNA Fragment Analysis System. Genet Test. 1997;98:201-206.
19. Golovleva I, Bhattacharya S, Wu Z, et al. Disease causing mutations in the cellular retinaldehyde-binding protein tighten as well as abolish ligand interactions. J Biol Chem. 2002;278:12397-12402.
20. Marmor MF, Holder GE, Seeliger MW, Yamamoto S. International Society for Clinical Electrophysiology of Vision: standard for clinical electroretinography. Doc Ophthalmol. 2004;108:107-114.
21. Rebello G, Ramesar R, Vorster A, et al. Apoptosis-inducing signal sequence mutation in carbonic anhydrase IV identified in patients with the RP17 form of retinitis pigmentosa. Proc Natl Acad Sci USA. 2004;101:6617-6622. (Pubitemid 38586023)
22. Yang Z, Alvarez BV, Chakarova C, et al. Mutant carbonic anhydrase 4 impairs pH regulation and causes retinal photoreceptor degeneration. Hum Mol Genet. 2005;14:255-265.
23. Hamel C. Retinitis pigmentosa. Orphanet J Rare Dis. 2006;1:40.
24. Saari JC, Bredberg DL, Noy N. Control of substrate flow at a branch in the visual cycle. Biochemistry. 1994;33:3106-3112. (Pubitemid 24103374)
25. Bok D. Processing and transport of retinoids by the retinal pigment epithelium. Eye. 1990;4:326-332. (Pubitemid 20307089)
26. Crouch RK, Chader GJ, Wiggert B, Pepperberg DR. Retinoids and the visual process. Photochem Photobiol. 1996;64:613-621. (Pubitemid 27004976)
27. Wu Z, Yang Y, Shaw N, et al. Mapping the ligand binding pocket in the cellular retinaldehyde binding protein. J Biol Chem. 2003;278:12390-12396. (Pubitemid 36800224)
28. Stecher H, Prezhdo O, Das J, Crouch RK, Palczewski K. Isomerization of all-trans-9- and 13-desmethylretinol by retinal pigment epithelial cells. Biochemistry. 1999;38:13542-13550. (Pubitemid 129515681)