Mutations in the Optineurin Gene in Japanese Patients with Primary Open-Angle Glaucoma and Normal Tension Glaucoma

American Journal of Medical Genetics

Volumn 125 A, Issue 1, 2004, Pages 1-4

  Toda, Yoshiki ^a   Tang, Sa ^a   Kashiwagi, Kenji ^a   Mabuchi, Fumihiko ^a   Iijima, Hiroyuki ^a   Tsukahara, Shigeo ^a   Yamagata, Zentaro ^a  

^a UNIVERSITY OF YAMANASHI   (Japan)

Author keywords

Japanese; Normal tension glaucoma; Optineurin; PCR SSCP; Primary open angle glaucoma

Indexed keywords

GENE PRODUCT; OPTINEURIN; PROTEIN; UNCLASSIFIED DRUG;

ADULT; AGED; ARTICLE; ASIAN; CAUCASIAN; CONTROLLED STUDY; GENE FREQUENCY; GENE MUTATION; GENE SEQUENCE; GENETIC ASSOCIATION; GENETIC RISK; GENOTYPE; GLAUCOMA; HUMAN; JAPAN; MAJOR CLINICAL STUDY; MUTATIONAL ANALYSIS; NORMAL TENSION GLAUCOMA; OPEN ANGLE GLAUCOMA; PRIORITY JOURNAL; RACE DIFFERENCE; RISK FACTOR; SEQUENCE ANALYSIS; SINGLE STRAND CONFORMATION POLYMORPHISM;

EID: 0842283985     PISSN: 15524825     EISSN: None     Source Type: Journal    
DOI: 10.1002/ajmg.a.20439     Document Type: Article

References (8)

1. Fingert JH, Heon E, Liebmann JM, Yamamoto T, Craig JE, Rait J, Kawase K, Hoh ST, Buys YM, Dickinson J, Hockey RR, Williams-Lyn D, Trope G, Kitazawa Y, Ritch R, Mackey DA, Alward WL, Sheffield VC, Stone EM. 1999. Analysis of myocilin mutations in 1703 glaucoma patients from five different populations. Hum Mol Genet 8:899-905.
2. Kubota R, Noda S, Wang Y, Minoshima S, Asakawa S, Kudoh J, Mashima Y, Oguchi Y, Shimizu N. 1997. A novel myosin-like protein (myocilin) expressed in the connecting cilium of the photoreceptor: Molecular cloning, tissue expression, and chromosomal mapping. Genomics 41: 360-369.
3. Mabuchi F, Yamagata Z, Kashiwagi K, Tang S, Iijima H, Tsukahara S. 2001. Analysis of myocilin gene mutations in Japanese patients with normal tension glaucoma and primary open-angle glaucoma. Clin Genet 59: 263-268.
4. Quigley HA. 1996. Number of people with glaucoma worldwide. Br J Ophthalmol 80:389-393.
5. Rezaie T, Child A, Hitchings R, Brice G, Miller L, Coca-Prados M, Heon E, Krupin T, Ritch R, Kreutzer D, Crick RP, Sarfarazi M. 2002. Adult-onset primary open-angle glaucoma caused by mutations in optineurin. Science 295:1077-1079.
6. Sarfarazi M, Child A, Stoilova D, Brice G, Desai T, Trifan OC, Poinoosawmy D, Crick RP. 1998. Localization of the fourth locus (GLC1E) for adult-onset primary open-angle glaucoma to the 10p15-p14 region. Am J Hum Genet 62:641-652.
7. Shiose Y, Kitazawa Y, Tsukahara S, Akamatsu T, Mizokami K, Futa R, Katsushima H, Kosaki H. 1991. Epidemiology of glaucoma in Japan-A nationwide glaucoma survey. Jpn J Ophthalmol 35:133-155.
8. Stone EM, Fingert JH, Alward WL, Nguyen TD, Polansky JR, Sunden SL, Nishimura D, Clark AF, Nystuen A, Nichols BE, Mackey DA, Ritch R, Kalenak JW, Craven ER, Sheffield VC. 1997. Identification of a gene that causes primary open angle glaucoma. Science 275:668-670.