A two-stage approach identifies a Q344X mutation in the rhodopsin gene of a Chinese Singaporean family with autosomal dominant retinitis pigmentosa

Annals of the Academy of Medicine Singapore

Volumn 34, Issue 1, 2005, Pages 94-99

  Yong, R Y Y ^a,c   Chee, C K L ^b   Yap, E P H ^a  

^a DSO NATIONAL LABORATORIES   (Singapore)

^b NATIONAL UNIVERSITY HOSPITAL   (Singapore)

^c DMERI DSO ^*  (Singapore)

Author keywords

Genetic linkage analysis; Mutational analysis

Indexed keywords

RHODOPSIN;

ARTICLE; AUTOSOMAL DOMINANT DISORDER; AUTOSOMAL DOMINANT INHERITANCE; CAUCASIAN; CELL DEGENERATION; CHINESE; DISEASE SEVERITY; ETHNOLOGY; EXON; FEMALE; GENE LOCUS; GENE MUTATION; GENE SEGREGATION; GENETIC DISORDER; GENETIC HETEROGENEITY; GENETIC LINKAGE; HUMAN; MALE; NUCLEOTIDE SEQUENCE; PHENOTYPE; PHOTORECEPTOR; RESTRICTION FRAGMENT LENGTH POLYMORPHISM; RETINITIS PIGMENTOSA; SINGAPORE;

EID: 15044352209     PISSN: 03044602     EISSN: 29724066     Source Type: Journal    
DOI: None     Document Type: Article

References (34)

1. Daiger SP, Sullivan LA, Rodriguez JA. Correlation of phenotype with genotype in inherited retinal degeneration. In: Behavioral & Brain Sciences Special Issue: Controversies in Neuroscience III: Signal Transduction in the Retina and Brain 1995;18:452-67. Available at: http://www.bbsonline.org/view-3. html. Accessed January 13, 2005.
2. Evans K, Bhattacharya SS. Retinal dystrophies: a molecular genetic approach. In: Pawlowitzki IH, Edwards JH, Thompson EA, editors. Genetic Mapping of Disease Genes. San Diego: Academic Press, 1997:247-54.
3. Sullivan LS, Daiger SP. Inherited retinal degeneration: exceptional genetic and clinical heterogeneity. Mol Med Today 1996;2:380-6.
4. Pang CP, Lam DS. Differential occurrence of mutations causative of eye diseases in the Chinese population. Hum Mutat 2002;19:189-208.
5. Greenberg J, Bartmann L, Ramesar R, Beighton P. Retinitis pigmentosa in southern Africa. Clin Genet 1993;44:232-5.
6. Hu DN. Prevalence and mode of inheritance of major genetic eye diseases in China. J Med Genet 1987;24:584-8.
7. Rivolta C, Sharon D, DeAngelis MM, Dryja TP. Retinitis pigmentosa and allied diseases: numerous diseases, genes and inherited patterns. Hum Mol Genet 2002;11:1217-27.
8. Dryja TP, McEvoy JA, McGee TL, Berson EL. Novel rhodopsin mutation Gly114Val and Gln184Pro in dominant retinitis pigmentosa. Invest Ophthalmol Vis Sci 2000;41:3124-7.
9. Gregory-Evans K, Bhattacharya SS. Genetic blindness: current concepts in the pathogenesis of human outer retinal dystrophies. Trends Genet 1998;14:103-8.
10. Inglehearn CF, Tarttelin EE, Plant C, Peacock RE, Al-Maghtheh M, Vithana E, et al. A linkage survey of 20 dominant retinitis pigmentosa families: frequencies of the nine known loci and evidence for further heterogeneity. J Med Genet 1998;35:1-5.
11. Kajiwara K, Berson EL, Dryja TP. Digenic retinitis pigmentosa due to mutations at the unlinked peripherin/RDS and ROM1 loci. Science 1994;264:1604-8.
12. Dib C, Faure S, Fizames C, Samson D, Drouot N, Vignal A, et al. A comprehensive genetic map of the human genome based on 5,264 microsatellites. Nature 1996;380:152-4.
13. Deloukas P, Schuler GD, Gyapay G, Beasley EM, Soderlund C, Rodriguez-Tome P, et al. A physical map of 30,000 human genes. Science 1998;282:744-6.
14. Weber JL, May PE. Abundant class of human DNA polymorphisms which can be typed using the polymerase chain reaction. Am J Hum Genet 1989;44:388-96.
15. Kawano H, Hotta Y, Fujiki K, Takeda M, Iwata F, Sakuma H, et al. A study on the rhodopsin gene in Japanese retinitis pigmentosa - screening of mutation by restriction endonucreases and frequencies of DNA polymorphisms. Nippon Ganka Gakkai Zasshi 1995;99:1151-7.
16. Isashiki Y, Feng XM, Ohba N, Ozawa T, Izumo S. A novel Aval polymorphism within exon 5 of the rhodopsin gene. Jpn J Hum Genet 1996;41:221-3.
17. Dryja TP, Hahn LB, Cowley GS, McGee TL, Berson EL. Mutation spectrum of the rhodopsin gene among patients with autosomal dominant retinitis pigmentosa. Proc Natl Acad Sci U S A 1991;88:9370-4.
18. Sung CH, Davenport CM, Hennessey JC, Maumenee IH, Jacobson SG, Heckenlively JR, et al. Rhodopsin mutations in autosomal dominant retinitis pigmentosa. Proc Natl Acad Sci U S A 1991;88:6481-5.
19. Kremmer S, Eckstein A, Gal A, Apfelstedt-Sylla E, Wedemann H, Ruther K, et al. Ocular findings in patients with autosomal dominant retinitis pigmentosa and Cys110Phe, Arg135Gly, and Gln344stop mutations of rhodopsin. Graefes Arch Clin Exp Ophthalmol 1997;235:575-83.
20. Chan WM, Yeung KY, Pang CP, Baum L, Lau TC, Kwok AK, et al. Rhodopsin mutation in Chinese patients with retinitis pigmentosa. Br J Ophthalmol 2001;85:1046-8.
21. Shiono T, Hotta Y, Noro M, Sakuma T, Tamai M, Hayakawa M, et al. Clinical features of Japanese family with autosomal dominant retinitis pigmentosa caused by point mutation in codon 347 of rhodopsin gene. Jpn J Ophthalmol 1992;36:69-75.
22. Zhao K, Xiong S, Wang L, Wang L, Cui Y, Wang Q. Novel rhodopsin mutation in a Chinese family with autosomal dominant retinitis pigmentosa. Ophthalmic Genet 2001;22:155-62.
23. Dikshit M, Agarwal R. Mutation analysis of codons 345 and 347 of rhodopsin gene in Indian retinitis pigmentosa patients. J Genet 2001; 80:111-6.
24. Roberts L, Ramesar R, Greenberg J. Low frequency of rhodopsin mutations in South African patients with autosomal dominant retinitis pigmentosa. Clin Genet 2000;58:77-8.
25. Trujillo MJ, del Rio T, Reig C, Benitez J, Garcia Sandoval B, Carballo M, et al. The Pro347Leu mutation of the rhodopsin gene in a Spanish family with autosomal dominant pigmentary retinosis. Med Clin (Barc) 1998;110:501-4.
26. Kucinskas V, Payne AM, Ambrasiene D, Jurgelevicius V, Steponaviciute D, Arciuliene JV, et al. Molecular genetic study of autosomal dominant retinitis pigmentosa in Lithuanian patients. Hum Hered 1999;49:71-4.
27. Horn M, Humphries P, Kunisch M, Marchese C, Apfelstedt-Sylla E, Fugi L, et al. Deletions in exon 5 of the human rhodopsin gene causing a shift in the reading frame and autosomal dominant retinitis pigmentosa. Hum Genet 1992;90:255-7.
28. Sung CH, Makino C, Baylor D, Nathans J. A rhodopsin gene mutation responsible for autosomal dominant retinitis pigmentosa results in a protein that is defective in localization to the photoreceptor outer segment. J Neurosci 1994;14:5818-33.
29. Tai AW, Chuang JZ, Bode C, Wolfrum U, Sung CH. Rhodopsin's carboxy-terminal cytoplasmic tail acts as a membrane receptor for cytoplasmic dynein by binding to the dynein light chain Tctex-1. Cell 1999;9:877-87.
30. Deretic D, Schmerl S, Hargrave PA, Arendt A, McDowell JH. Regulation of sorting and post-Golgi trafficking of rhodopsin by its C-terminal sequence QVS(A)PA. Proc Natl Acad Sci U S A 1998;95:10620-5.
31. Green ES, Menz MD, LaVail MM, Flannery JG. Characterization of rhodopsin mis-sorting and constitutive activation in a transgenic rat model of retinitis pigmentosa. Invest Ophthalmol Vis Sci 2000;41: 1546-53.
32. Jacobson SG, Kemp CM, Sung CH, Nathans J. Retinal function and rhodopsin levels in autosomal dominant retinitis pigmentosa with rhodopsin mutations. Am J Ophthalmol 1991;112:256-71.
33. Hayakawa M, Hotta Y, Imai Y, Fujiki K, Nakamura A, Yanashima K, et al. Clinical features of autosomal dominant retinitis pigmentosa with rhodopsin gene codon 17 mutation and retinal neovascularization in a Japanese patient. Am J Ophthalmol 1993;115:168-73.
34. Fujiki K, Hotta Y, Murakami A, Yoshii M, Hayakawa M, Ichikawa T, et al. Missense mutation of rhodopsin gene codon 15 found in Japanese autosomal dominant retinitis pigmentosa. Jpn J Hum Genet 1995;40: 271-7.