A novel mutation in GRK1 causes Oguchi disease in a consanguineous Pakistani family

Molecular Vision

Volumn 15, Issue , 2009, Pages 1788-1793

  Azam, Maleeha ^a,b   Collin, Rob W J ^b,c   Khan, Muhammad Imran ^a   Shah, Syed Tahir Abbas ^a   Qureshi, Nadeem ^d   Ajmal, Muhammad ^a,e   den Hollander, Anneke I ^b,c   Qamar, Raheel ^a,e   Cremers, Frans P M ^a,b,c  

^a Institute of Information Technology ^*  (Pakistan)

^b RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^c RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^d AL SHIFA TRUST EYE HOSPITAL   (Pakistan)

^e SHIFA COLLEGE OF MEDICINE   (Pakistan)

Author keywords

[No Author keywords available]

Indexed keywords

RHODOPSIN KINASE;

ADOLESCENT; ADULT; AGED; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; AUTOSOMAL RECESSIVE RETINITIS PIGMENTOSA; CHILD; CHROMOSOME 13Q; CHROMOSOME MAP; CLINICAL ARTICLE; CONSANGUINITY; CONTROLLED STUDY; EXON; FEMALE; FLUORESCENCE; GENE LOCATION; GENE MAPPING; GENE SEGREGATION; GENE SEQUENCE; GENETIC VARIABILITY; GENOTYPE; HAPLOTYPE; HOMOZYGOSITY; HUMAN; MALE; MICROSATELLITE MARKER; MUTATIONAL ANALYSIS; NONSENSE MUTATION; OGUCHI DISEASE; PAKISTAN; PHOTOTRANSDUCTION; PRIORITY JOURNAL; PROMOTER REGION; RESTRICTION FRAGMENT LENGTH POLYMORPHISM; RETINITIS PIGMENTOSA; SINGLE NUCLEOTIDE POLYMORPHISM;

ADOLESCENT; ADULT; AGED; AMINO ACID SEQUENCE; ASIAN CONTINENTAL ANCESTRY GROUP; BASE SEQUENCE; CHILD; CHILD, PRESCHOOL; CONSANGUINITY; DNA MUTATIONAL ANALYSIS; EYE DISEASES; FAMILY; FEMALE; FUNDUS OCULI; G-PROTEIN-COUPLED RECEPTOR KINASE 1; HAPLOTYPES; HUMANS; MALE; MIDDLE AGED; MOLECULAR SEQUENCE DATA; MUTATION; PAKISTAN; PEDIGREE;

EID: 70149103767     PISSN: None     EISSN: 10900535     Source Type: Journal    
DOI: None     Document Type: Article

References (26)

1. Oguchi C. Über einen Fall von eigenartiger Hemeralopie. Nippon Ganka Gakkai Zasshi 1913; 11:123.
2. Mizuo G. On a new discovery in the dark adaptation on Oguchi's disease. Acta societatis ophthalmologicae Japonicae 1913; 17:1148.
3. Usui T, Ichibe M, Ueki S, Takagi M, Hasegawa S, Abe H, Sekiya K, Nakazawa M. Mizuo phenomenon observed by scanning laser ophthalmoscopy in a patient with Oguchi disease. Am J Ophthalmol 2000; 130:359-61.
4. Fuchs S, Nakazawa M, Maw M, Tamai M, Oguchi Y, Gal A. A homozygous 1-base pair deletion in the arrestin gene is a frequent cause of Oguchi disease in Japanese. Nat Genet 1995; 10:360-2.
5. Zhang Q, Zulfiqar F, Riazuddin SA, Xiao X, Yasmeen A, Rogan PK, Caruso R, Sieving PA, Riazuddin S, Hejtmancik JF. A variant form of Oguchi disease mapped to 13q34 associated with partial deletion of GRK1 gene. Mol Vis 2005; 11:977-85.
6. Maw MA, John S, Jablonka S, Muller B, Kumaramanickavel G, Oehlmann R, Denton MJ, Gal A. Oguchi disease: suggestion of linkage to markers on chromosome 2q. J Med Genet 1995; 32:396-8.
7. Hayashi T, Gekka T, Takeuchi T, Goto-Omoto S, Kitahara K. A novel homozygous GRK1 mutation (P391H) in 2 siblings with Oguchi disease with markedly reduced cone responses. Ophthalmology 2007; 114:134-41.
8. Ohguro H, Van Hooser JP, Milam AH, Palczewski K. Rhodopsin phosphorylation and dephosphorylation in vivo. J Biol Chem 1995; 270:14259-62.
9. Cideciyan AV, Zhao X, Nielsen L, Khani SC, Jacobson SG, Palczewski K. Null mutation in the rhodopsin kinase gene slows recovery kinetics of rod and cone phototransduction in man. Proc Natl Acad Sci USA 1998; 95:328-33.
10. Khani SC, Nielsen L, Vogt TM. Biochemical evidence for pathogenicity of rhodopsin kinase mutations correlated with the Oguchi form of congenital stationary night blindness. Proc Natl Acad Sci USA 1998; 95:2824-7.
11. Yamamoto S, Khani SC, Berson EL, Dryja TP. Evaluation of the rhodopsin kinase gene in patients with retinitis pigmentosa. Exp Eye Res 1997; 65:249-53.
12. Standard for clinical electroretinography. International Standardization Committee. Arch Ophthalmol 1989; 107:816-9.
13. Sambrook J, Fritsch EF, Maniatis T. 1989. Molecular Cloning: A Laboratory Manual (2nd ed.), Cold Spring Harbour Laboratory Press, Cold Spring Harbor, New York.
14. Lindner TH, Hoffmann K. easyLINKAGE: A PERL script for easy and automated two-/multi-point linkage analyses. Bioinformatics 2005; 21:405-7.
15. Yamamoto S, Hayashi M, Takeuchi S, Shirao Y, Kita K, Kawasaki K. Normal S cone electroretinogram b-wave in Oguchi's disease. Br J Ophthalmol 1997; 81:1043-5.
16. Heckenlively JR, Weleber RG. X-linked recessive cone dystrophy with tapetal-like sheen. Arch Ophthalmol 1986; 104:1322-8.
17. Pinckers A, Deutman AF. X-linked cone dystrophy. An overlooked diagnosis. Int Ophthalmol 1987; 10:241-3.
18. Noble KG, Margolis S, Carr R. The golden tapetal sheen reflex in retinal disease. Am J Ophthalmol 1989; 107:211-7.
19. de Jong PTVM, Zrenner E, van Meel GJ, Keunen JEE, van Norren D. Mizuo Phenomenon in X-linked Retinoschisis. Pathogenesis of the Mizuo phenomenon. Arch Ophthalmol 1991; 109:1104-8.
20. Yamamoto S, Sippel KC, Berson EL, Dryja TP. Defects in the rhodopsin kinase gene in the Oguchi form of stationary night blindness. Nat Genet 1997; 15:175-8.
21. Yoshida S, Yamaji Y, Yoshida A, Ikeda Y, Yamamoto K, Ishibashi T. Rapid detection of SAG 926delA mutation using real-time polymerase chain reaction. Mol Vis 2006; 12:1552-7.
22. Oishi A, Akimoto M, Kawagoe N, Mandai M, Takahashi M, Yoshimura N. Novel mutations in the GRK1 gene in Japanese patients with Oguchi disease. Am J Ophthalmol 2007; 144:475-7.
23. Carr RE, Gouras P. Oguchi's disease. Arch Ophthalmol 1965; 73:646-56.
24. Horner TJ, Osawa S, Schaller MD, Weiss ER. Phosphorylation of GRK1 and GRK7 by cAMP-dependent protein kinase attenuates their enzymatic activities. J Biol Chem 2005; 280:28241-50.
25. Choi S, Hao W, Chen CK, Simon MI. Gene expression profiles of light-induced apoptosis in arrestin/rhodopsin kinasedeficient mouse retinas. Proc Natl Acad Sci USA 2001; 98:13096-101.
26. Chen CK, Burns ME, Spencer M, Niemi AG, Chen J, Hurley J, Baylor DA, Simon MI. Abnormal photoresponses and lightinduced apoptosis in rods lacking rhodopsin kinase. Proc Natl Acad Sci USA 1999; 96:3718-22.