R213W mutation in the retinoschisis 1 gene causes X-linked juvenile retinoschisis in a large Chinese family

Molecular Vision

Volumn 16, Issue , 2010, Pages 1593-1600

  Xu, Jun ^a   Gu, Hong ^a   Ma, Kai ^a   Liu, Xipu ^b   Snellingen, Torkel ^b   Sun, Erdan ^a   Wang, Ningli ^a   Liu, Ningpu ^a  

^a CAPITAL MEDICAL UNIVERSITY   (China)

^b Sekwa Eye Hospital   (China)

Author keywords

[No Author keywords available]

Indexed keywords

ARGININE; GENOMIC DNA; RESTRICTION ENDONUCLEASE; RETINOSCHISIN; TRYPTOPHAN;

ADOLESCENT; ADULT; AGED; AMINO ACID SUBSTITUTION; ARTICLE; BLOOD ANALYSIS; CHILD; CHINESE; DISEASE SEVERITY; DNA ISOLATION; EXON; EYE EXAMINATION; FAMILY HISTORY; FAMILY STUDY; FEMALE; GENE IDENTIFICATION; GENE SEQUENCE; GENETIC SCREENING; GENETIC VARIABILITY; HUMAN; MAJOR CLINICAL STUDY; MALE; MUTATIONAL ANALYSIS; PEDIGREE; PHENOTYPE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; PROTEIN DEGRADATION; RETINA MACULA LUTEA; RETINOSCHISIS; VENOUS BLOOD; VISUAL ACUITY; VITRECTOMY; VITREOUS HEMORRHAGE; X CHROMOSOME LINKED DISORDER;

AMINO ACID SUBSTITUTION; ASIAN CONTINENTAL ANCESTRY GROUP; BASE SEQUENCE; CHILD, PRESCHOOL; CHINA; DNA MUTATIONAL ANALYSIS; ELECTROPHORESIS, AGAR GEL; EYE PROTEINS; FAMILY; FEMALE; FUNDUS OCULI; GENES, X-LINKED; HUMANS; MALE; MOLECULAR SEQUENCE DATA; MUTATION; OPEN READING FRAMES; PEDIGREE; RETINOSCHISIS;

EID: 77956954036     PISSN: None     EISSN: 10900535     Source Type: Journal    
DOI: None     Document Type: Article

References (23)

1. The retinoschisis consortium: Functional implications of the spectrum of mutations found in 234 cases with x-linked juvenile retinoschisis. Hum Mol Genet 1998; 7:1185-1192.
2. Wang T, Waters CT, Rothman AM, Jakins TJ, Romisch K, Trump D. Intracellular retention of mutant retinoschisin is the pathological mechanism underlying x-linked retinoschisis. Hum Mol Genet 2002; 11:3097-3105.
3. Huopaniemi L, Rantala A, Tahvanainen E, de la Chapelle A, Alitalo T. Linkage disequilibrium and physical mapping of X-linked juvenile retinoschisis. Am J Hum Genet 1997; 60:1139-1149.
4. George ND, Yates JR, Moore AT. X linked retinoschisis. Br J Ophthalmol 1995; 79:697-702.
5. George ND, Yates JR, Moore AT. Clinical features in affected males with x-linked retinoschisis. Arch Ophthalmol 1996; 114:274-280.
6. Sauer CG, Gehrig A, Warneke-Wittstock R, Marquardt A, Ewing CC, Gibson A, Lorenz B, Jurklies B, Weber BH. Positional cloning of the gene associated with x-linked juvenile retinoschisis. Nat Genet 1997; 17:164-170.
7. Molday LL, Hicks D, Sauer CG, Weber BH, Molday RS. Expression of x-linked retinoschisis protein rs1 in photoreceptor and bipolar cells. Invest Ophthalmol Vis Sci 2001; 42:816-825.
8. Ma X, Li X, Wang L. Novel xlrs1 gene mutations cause x- linked juvenile retinoschisis in chinese families. Jpn J Ophthalmol 2008; 52:48-51.
9. Eksandh LC, Ponjavic V, Ayyagari R, Bingham EL, Hiriyanna KT, Andreasson S, Ehinger B, Sieving PA. Phenotypic expression of juvenile x-linked retinoschisis in Swedish families with different mutations in the xlrs1 gene. Arch Ophthalmol 2000; 118:1098-1104.
10. Li X, Ma X, Tao Y. Clinical features of x linked juvenile retinoschisis in chinese families associated with novel mutations in the rs1 gene. Mol Vis 2007; 13:804-812.
11. Lesch B, Szabo V, Kanya M, Somfai GM, Vamos R, Varsanyi B, Pamer Z, Knezy K, Salacz G, Janaky M, Ferencz M, Hargitai J, Papp A, Farkas A. Clinical and genetic findings in hungarian patients with x-linked juvenile retinoschisis. Mol Vis 2008; 14:2321-2332.
12. Dodds JA, Srivastava AK, Holden KR. Unusual phenotypic expression of an xlrs1 mutation in x-linked juvenile retinoschisis. J Child Neurol 2006; 21:331-333.
13. Iannaccone A, Mura M, Dyka FM, Ciccarelli ML, Yashar BM, Ayyagari R, Jablonski MM, Molday RS. An unusual x-linked retinoschisis phenotype and biochemical characterization of the w112c rs1 mutation. Vision Res 2006; 46:3845-3852.
14. Rodriguez IR, Mazuruk K, Jaworski C, Iwata F, Moreira EF, Kaiser-Kupfer MI. Novel mutations in the xlrs1 gene may be caused by early okazaki fragment sequence replacement. Invest Ophthalmol Vis Sci 1998; 39:1736-1739.
15. Sieving PA, Bingham EL, Kemp J, Richards J, Hiriyanna K. Juvenile x-linked retinoschisis from xlrs1 arg213trp mutation with preservation of the electroretinogram scotopic b-wave. Am J Ophthalmol 1999; 128:179-184.
16. Mendoza-Londono R, Hiriyanna KT, Bingham EL, Rodriguez F, Shastry BS, Rodriguez A, Sieving PA, Tamayo ML. A colombian family with x-linked juvenile retinoschisis with three affected females finding of a frameshift mutation. Ophthalmic Genet 1999; 20:37-43.
17. Shinoda K, Mashima Y, Ishida S, Oguchi Y. Severe juvenile retinoschisis associated with a 33-bps deletion in xlrs1 gene. Ophthalmic Genet 1999; 20:57-61.
18. Suganthalakshmi B, Shukla D, Rajendran A, Kim R, Nallathambi J, Sundaresan P. Genetic variations in the hotspot region of rs1 gene in indian patients with juvenile x-linked retinoschisis. Mol Vis 2007; 13:611-617.
19. Grayson C, Reid SN, Ellis JA, Rutherford A, Sowden JC, Yates JR, Farber DB, Trump D. Retinoschisin, the x-linked retinoschisis protein, is a secreted photoreceptor protein, and is expressed and released by weri-rb1 cells. Hum Mol Genet 2000; 9:1873-1879.
20. Kim SY, Ko HS, Yu YS, Hwang JM, Lee JJ, Kim JY, Seong MW, Park KH, Park SS. Molecular genetic characteristics of x-linked retinoschisis in koreans. Mol Vis 2009; 15:833-843.
21. Riveiro-Alvarez R, Trujillo-Tiebas MJ, Gimenez-Pardo A, Garcia-Hoyos M, Lopez-Martinez MA, Aguirre-Lamban J, Garcia-Sandoval B, Vazquez-Fernandez del Pozo S, Cantalapiedra D, Avila-Fernandez A, Baiget M, Ramos C, Ayuso C. Correlation of genetic and clinical findings in spanish patients with x-linked juvenile retinoschisis. Invest Ophthalmol Vis Sci 2009; 50:4342-4350.
22. Renner AB, Kellner U, Fiebig B, Cropp E, Foerster MH, Weber BH. Erg variability in x-linked congenital retinoschisis patients with mutations in the rs1 gene and the diagnostic importance of fundus autofluorescence and oct. Doc Ophthalmol 2008; 116:97-109.
23. Eksandh L, Andreasson S, Abrahamson M. Juvenile x-linked retinoschisis with normal scotopic b-wave in the electroretinogram at an early stage of the disease. Ophthalmic Genet 2005; 26:111-117.