Phenotypic expression of X-linked retinoschisis in Chinese families with mutations in the RS1 gene

Documenta Ophthalmologica

Volumn 123, Issue 1, 2011, Pages 21-27

  Xu, Fei ^a   Xiang, Hang ^a   Jiang, Ruxin ^a   Dong, Fangtian ^a   Sui, Ruifang ^a  

^a PEKING UNION MEDICAL COLLEGE HOSPITAL   (China)

Author keywords

Electronegative; ERG; Mutation; Retinoschisis

Indexed keywords

GENOMIC DNA; RETINOSCHISIN;

ADOLESCENT; ADULT; ARTICLE; CHILD; CHINESE; CLINICAL ARTICLE; CLINICAL EVALUATION; CLINICAL FEATURE; CONTROLLED STUDY; DISEASE CARRIER; DNA SEQUENCE; ELECTRORETINOGRAPHY; FEMALE; FOVEAL SCHISIS; GENE EXPRESSION; GENE MUTATION; GENETIC DISORDER; GENETIC POLYMORPHISM; GENETIC SCREENING; GENOTYPE; HUMAN; MALE; MISSENSE MUTATION; NUCLEOTIDE SEQUENCE; PHENOTYPE; PRESCHOOL CHILD; PRIORITY JOURNAL; RETINA DISEASE; RETINOSCHISIS; SCHOOL CHILD; X CHROMOSOME; X LINKED RETINOSCHISIS;

ADULT; AMINO ACID SEQUENCE; ASIAN CONTINENTAL ANCESTRY GROUP; CHILD; CHROMOSOMES, HUMAN, X; CODON, NONSENSE; DNA MUTATIONAL ANALYSIS; ELECTRORETINOGRAPHY; EYE PROTEINS; FEMALE; HUMANS; MALE; MIDDLE AGED; MOLECULAR SEQUENCE DATA; MUTATION, MISSENSE; PEDIGREE; PHENOTYPE; POLYMERASE CHAIN REACTION; RETINA; RETINOSCHISIS; TOMOGRAPHY, OPTICAL COHERENCE;

EID: 79960895331     PISSN: 00124486     EISSN: 15732622     Source Type: Journal    
DOI: 10.1007/s10633-011-9278-x     Document Type: Article

References (25)

1. Tantri A, Vrabec TR, Cu-Unjieng A, Frost A, Annesley WH Jr, Donoso LA (2004) X-linked retinoschisis: a clinical and molecular genetic review. Surv Ophthalmol 49:214-230 (Pubitemid 38296502)
2. George ND, Yates JR, Bradshaw K, Moore AT (1995) Infantile presentation of X linked retinoschisis. Br J Ophthalmol 79:653-657
3. George ND, Yates JR, Moore AT (1995) X linked retinoschisis. Br J Ophthalmol 79:697-702
4. George ND, Yates JR, Moore AT (1996) Clinical features in affected males with X-linked retinoschisis. Arch Ophthalmol 114:274-280 (Pubitemid 26086732)
5. Roesch MT, Ewing CC, Gibson AE, Weber BH (1998) The natural history of X-linked retinoschisis. Can J Ophthalmol 33:149-158
6. Grayson C, Reid SN, Ellis JA, Rutherford A, Sowden JC, Yates JR, Farber DB, Trump D (2000) Retinoschisin, the X-linked retinoschisis protein, is a secreted photoreceptor protein, and is expressed and released by Weri-Rb1 cells. Hum Mol Genet 9:1873-1879 (Pubitemid 30608620)
7. Ando A, Takahashi K, Sho K, Matsushima M, Okamura A, Uyama M (2000) Histopathological findings of X-linked retinoschisis with neovascular glaucoma. Graefes Arch Clin Exp Ophthalmol 238:1-7 (Pubitemid 30160494)
8. Sauer CG, Gehrig A, Warneke-Wittstock R, Marquardt A, Ewing CC, Gibson A, Lorenz B, Jurklies B, Weber BH (1997) Positional cloning of the gene associated with X-linked juvenile retinoschisis. Nat Genet 17:164-170 (Pubitemid 27425948)
9. Wu WW, Molday RS (2003) Defective discoidin domain structure, subunit assembly, and endoplasmic reticulum processing of retinoschisin are primary mechanisms responsible for X-linked retinoschisis. J Biol Chem 278:28139-28146 (Pubitemid 36900012)
10. Wu WW, Wong JP, Kast J, Molday RS (2005) RS1, a discoidin domain-containing retinal cell adhesion protein associated with X-linked retinoschisis, exists as a novel disulfide-linked octamer. J Biol Chem 280:10721-10730 (Pubitemid 40395934)
11. Molday LL, Hicks D, Sauer CG, Weber BH, Molday RS (2001) Expression of X-linked retinoschisis protein RS1 in photoreceptor and bipolar cells. Invest Ophthalmol Vis Sci 42:816-825 (Pubitemid 32206926)
12. Sergeev YV, Caruso RC, Meltzer MR, Smaoui N, MacDonald IM, Sieving PA (2010) Molecular modeling of retinoschisin with functional analysis of pathogenic mutations from human X-linked retinoschisis. Hum Mol Genet 19:1302-1313
13. Yu P, Li J, Li R, Zhang W (2001) Identification of mutation of the X-linked juvenile retinoschisis gene. Zhonghua Yi Xue Yi Chuan Xue Za Zhi 18:88-91
14. Chan WM, Choy KW, Wang J, Lam DS, Yip WW, Fu W, Pang CP (2004) Two cases of X-linked juvenile retinoschisis with different optical coherence tomography findings and RS1 gene mutations. Clin Exp Ophthalmol 32:429-432 (Pubitemid 39193865)
15. Zeng M, Yi C, Guo X, Jia X, Deng Y, Wang J, Shen H (2007) Identification of novel mutations in the XLRS1 gene in Chinese patients with X-linked juvenile retinoschisis. Curr Eye Res 32:685-691 (Pubitemid 47400691)
16. Li X, Ma X, Tao Y (2007) Clinical features of X linked juvenile retinoschisis in Chinese families associated with novel mutations in the RS1 gene. Mol Vis 13:804-812 (Pubitemid 46902154)
17. Xu J, Gu H, Ma K, Liu X, Snellingen T, Sun E, Wang N, Liu N (2010) R213W mutation in the retinoschisis 1 gene causes X-linked juvenile retinoschisis in a large Chinese family. Mol Vis 16:1593-1600
18. Marmor MF, Fulton AB, Holder GE, Miyake Y, Brigell M, Bach M (2009) Standard for clinical electroretinography (2008 update). Doc Ophthalmol 118:69-77
19. Suganthalakshmi B, Shukla D, Rajendran A, Kim R, Nallathambi J, Sundaresan P (2007) Genetic variations in the hotspot region of RS1 gene in Indian patients with juvenile X-linked retinoschisis. Mol Vis 13:611-617
20. Lesch B, Szabo V, Kanya M, Somfai GM, Vamos R, Varsányi B, Pámer Z, Knézy K, Salacz G, Janáky M, Ferencz M, Hargitai J, Papp A, Farkas A (2008) Clinical and genetic findings in Hungarian patients with X-linked juvenile retinoschisis. Mol Vis 14:2321-2332
21. Vijayasarathy C, Ziccardi L, Zeng Y, Smaoui N, Caruso RC, Sieving PA (2009) Null retinoschisin-protein expression from an RS1 c354del1-ins18 mutation causing progressive and severe XLRS in a cross-sectional family study. Invest Ophthalmol Vis Sci 50:5375-5383
22. Sieving PA, Bingham EL, Kemp J, Richards J, Hiriyanna K (1999) Juvenile X-linked retinoschisis from XLRS1 Arg213Trp mutation with preservation of the electroretinogram scotopic b-wave. Am J Ophthalmol 128:179-184 (Pubitemid 29379770)
23. Johnson BA, Aoyama N, Friedell NH, Ikeda S, Ikeda A (2008) Genetic modification of the schisis phenotype in a mouse model of X-linked retinoschisis. Genetics 178:1785-1794
24. Takada Y, Vijayasarathy C, Zeng Y, Kjellstrom S, Bush RA, Sieving PA (2008) Synaptic pathology in retinoschisis knockout (Rs1-/y) mouse retina and modification by rAAV-Rs1 gene delivery. Invest Ophthalmol Vis Sci 49:3677-3686
25. Vijayasarathy C, Sui R, Zeng Y, Yang G, Xu F, Caruso RC, Lewis RA, Ziccardi L, Sieving PA (2010) Molecular mechanisms leading to null-protein product from retinoschisin (RS1) signal-sequence mutants in X-linked retinoschisis (XLRS) disease. Hum Mutat 31:1251-1260