Identification a novel MYOC gene mutation in a Chinese family with juvenile-onset open angle glaucoma

Molecular Vision

Volumn 16, Issue , 2010, Pages 1728-1735

  Zhao, Xin ^a   Yang, Chaoshan ^b   Tong, Yi ^c   Zhang, Xiaohui ^a   Xu, Liang ^a   Li, Yang ^a  

^a CAPITAL MEDICAL UNIVERSITY   (China)

^b LuShan Hospital   (China)

^c FUJIAN MEDICAL UNIVERSITY   (China)

Author keywords

[No Author keywords available]

Indexed keywords

COMPLEMENTARY DNA; GENOMIC DNA; MYOCILIN;

ADOLESCENT; ADULT; AGED; ARTICLE; CHINESE; CHROMOSOME 1Q; CLINICAL ARTICLE; DNA FRAGMENTATION; DNA SEQUENCE; EXON; FEMALE; GENE; GENE AMPLIFICATION; GENE MUTATION; GENOTYPE; HUMAN; INTRAOCULAR HYPERTENSION; LINKAGE ANALYSIS; MALE; MICROSATELLITE MARKER; MISSENSE MUTATION; MUTATIONAL ANALYSIS; MYOC GENE; NUCLEOTIDE SEQUENCE; ONSET AGE; OPEN ANGLE GLAUCOMA; PEDIGREE ANALYSIS; PENETRANCE; PHENOTYPE; PRIORITY JOURNAL; PROTEIN SECONDARY STRUCTURE; PROTEIN VARIANT;

ADULT; AGE OF ONSET; AMINO ACID SEQUENCE; ASIAN CONTINENTAL ANCESTRY GROUP; BASE SEQUENCE; CHINA; CYTOSKELETAL PROTEINS; DNA MUTATIONAL ANALYSIS; EYE PROTEINS; FAMILY; FEMALE; GENOTYPE; GLAUCOMA, OPEN-ANGLE; GLYCOPROTEINS; HAPLOTYPES; HUMANS; MALE; MOLECULAR SEQUENCE DATA; MUTATION; PEDIGREE; PROTEIN STRUCTURE, SECONDARY; YOUNG ADULT;

EID: 77956963991     PISSN: None     EISSN: 10900535     Source Type: Journal    
DOI: None     Document Type: Article

References (36)

1. Quigley HA, Broman AT. The number of people with glaucoma world wide in 2010 and 2020. Br J Ophthalmol 2006; 90:262-267.
2. Wiggs JL, Damji KF, Haines JL, Pericak-Vance MA, Allingham RR. The distinction between juvenile and adultonset primary open -angle glaucoma. Am J Hum Genet 1996; 58:243-244.
3. Booth A, Churchill A, Anwar R, Menage M, Markham A. The genetics of primary open angle glaucoma. Br J Ophthalmol 1997; 81:409-414.
4. Budde WM. Heredity in primary open-angle glaucoma. Curr Opin Ophthalmol 2000; 11:101-106.
5. Sheffield VC, Stone EM, Alward WL, Drack AV, Johnson AT, Streb LM, Nichols BE. Genetic linkage of familial open angle glaucoma to chromosome 1q21-q31. Nat Genet 1993; 4:47-50.
6. Stone EM, Fingert JH, Alward WLM, Nguyen TD, Polansky JR, Sunden SL, Nishimura D, Clark AF, Nystuen A, Nichols BE, Mackey DA, Ritch R, Kalenak JW, Craven ER, Sheffield VC. Identification of a gene that causes primary open angle glaucoma. Science 1997; 275:668-670.
7. Sarfarazi M, Child A, Stoilova D, Brice G, Desai T, Trifan OC, Ioinoosawmy D, Crick RP. Localization of the fourth locus (GLC1E) for adult-onset primary open-angle glaucoma to the 10p15-p14 region. Am J Hum Genet 1998; 62:641-652.
8. 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. Adult-onset primary open-angle glaucoma caused by mutations in optineurin. Science 2002; 295:1077-1079.
9. Monemi S, Spaeth G, DaSilva A, Popinchalk S, Ilitchev E, Liebmann J, Ritch R, Heon E, Crick RP, Child A, Sarfarazi M. Identification of a novel adult-onset primary open-angle glaucoma (POAG) gene on 5q22.1. Hum Mol Genet 2005; 14:725-733.
10. Pasutto F, Mardin CY, Michels-Rautenstrauss K, Weber BH, Sticht H, Chavarria-Soley G, Rautenstrauss B, Kruse F, Reis A. Profiling of WDR36 missense variants in German patients with glaucoma. Invest Ophthalmol Vis Sci 2008; 49:270-274.
11. Fingert JH, Stone EM, Sheffield VC, Alward WLM. Myocilin glaucoma. Surv Ophthalmol 2002; 47:547-561.
12. Gong G, Kosoko-Lasaki O, Haynatzki GR, Wilson MR. Genetic dissection of myocilin glaucoma. Hum Mol Genet 2004; 13:R91-R102.
13. Adam MF, Belmouden A, Binisti P, Brezin AP, Valtot F, Bechetoille A, Dascotte JC, Copin B, Gomez L, Chaventre A, Bach JF, Garchon HJ. Recurrent mutations in a single exon encoding the evolutionarily conserved olfactomedinhomology domain of TIGR in familial open-angle glaucoma. Hum Mol Genet 1997; 6:2091-2097.
14. Kee C, Ahn BH. TIGR gene in primary open-angle glaucoma and steroid-induced glaucoma. Korean J Ophthalmol 1997; 11:75-78.
15. Wiggs JL, Allingham RR, Vollrath D, Jones KH, De La Paz M, Kern J, Patterson K, Babb VL, Del Bono EA, Broomer BW, Pericak-Vance MA, Haines JL. Prevalence of mutations in TIGR/Myocilin in patients with adult and juvenile primary open-angle glaucoma. Am J Hum Genet 1998; 63:1549-1552.
16. 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. Analysis of myocilin mutations in 1703 glaucoma patients from five different populations. Hum Mol Genet 1999; 8:899-905.
17. Shimizu S, Lichter PR, Johnson AT, Zhou Z, Higashi M, Gottfredsdottir M, Othman M, Moroi SE, Rozsa FW, Schertzer RM, Clarke MS, Schwartz AL, Downs CA, Vollrath D, Richards JE. Age-dependent prevalence of mutations at the GLC1A locus in primary open angle glaucoma. Am J Ophthalmol 2000; 130:165-177.
18. Michels-Rautenstrauss K, Mardin G, Wakili N, Jünemann AM, Villalobos L, Mejia C, Soley GC, Azofeifa J, Özbey S, Naumann GO, Reis A, Rautenstrauss B. Novel mutations in the MYOC/GLC1A gene in a large group of glaucoma patients. Hum Mutat 2002; 20:479-480.
19. Pang CP, Leung YF, Fan BJ, Baum L, Tong WC, Lee WS, Chua JK, Fan DS, Liu Y, Lam DS. TIGR/MYOC gene sequence alterations in individuals with and without primary openangle glaucoma. Invest Ophthalmol Vis Sci 2002; 43:3231-3235.
20. Vincent AL, Billingsley G, Buys Y, Levin AV, Priston M, Trope G, Williams-Lyn D, Heon E. Digenic Inheritance of early-onset glaucoma: CYP1B1, a potential modifier gene. Am J Hum Genet 2002; 70:448-460.
21. Bruttini M, Longo I, Frezzotti P, Ciappetta R, Randazzo A, Orzalesi N, Fumagalli E, Caporossi A, Frezzotti R, Renieri A. Mutations in the myocilin gene in families with primary open-angle glaucoma and juvenile open-angle glaucoma. Arch Ophthalmol 2003; 121:1034-1038.
22. Fan BJ, Wang DY, Fan DS, Tam PO, Lam DS, Tham CC, Lam CY, Lau TC, Pang CP. SNPs and interaction analyses of myocilin, optineurin, and apolipoprotein E in primary open angle glaucoma patients. Mol Vis 2005; 11:625-631.
23. Fan BJ, Leung DYL, Wang DY, Gobeil S, Raymond V, Tam POS, Lam DSC, Pang CP. Novel Myocilin mutation in a Chinese family with Juvenile-onset open-angle glaucoma. Arch Ophthalmol 2006; 124:102-106.
24. Hogewind BF, Gaplovska-Kysela K, Theelen T, Cremers FPM, Yam GHF, Hoyng CB, Mukhopadhyay A. Identification and functional characterization of a novel MYOC mutation in two primary open angle glaucoma families from The Netherlands. Mol Vis 2007; 13:1793-1801.
25. Tian Q, Li FH, Zhao KX, Wang L, Shan XY, Pang YY, Li YX, Wu MJ, Qiu F, Li HY. A novel mutation in the myocilin gene identified in a Chinese primary open angle glaucoma family. Zhonghua Yi Xue Yi Chuan Xue Za Zhi 2007; 24:629-634.
26. Qin L, Li J. Investigation on the mutation of MYOC in two family pedigrees with open angle glaucoma in Shanxi. Yan Ke Xue Bao 2007; 23:75-78.
27. Hewitt AW, Mackey DA, Craig J. Myocilin allele-specific glaucoma phenotype database. Hum Mutat 2008; 29:207-211.
28. Xie X, Zhou X, Qu X, Wen J, Tian Y, Zheng F. Two novel myocilin mutations in a Chinese family with primary openangle glaucoma. Mol Vis 2008; 14:1666-1672.
29. Mengkegale M, Fuse N, Miyazawa A, Takahashi K, Seimiya M, Yasui T, Tamai M, Nakazawa T, Nishida K. Presence of myocilin sequence variants in Japanese patients with openangle glaucoma. Mol Vis 2008; 14:413-417.
30. Avisar I, Lusky M, Robinson A, Shohat M, Dubois S, Raymond V, Gaton D. The novel Y371D myocilin mutation causes an aggressive form of juvenile open-angle glaucoma in a Caucasian family from the Middle-East. Mol Vis 2009; 15:1945-1950.
31. Garnier J, Gibrat JF, Robson B. GOR method for predicting protein secondary structure from amino acid sequence. Methods Enzymol 1996; 266:540-553.
32. Chen Y, Jiang D, Wan B, Yu L, Sun X. Presymptomatic genetic diagnosis for consulters from a large Chinese family with juvenile open angle glaucoma. Mol Vis 2006; 12:360-366.
33. Zhuo YH, Wei Y, Bai Y, Duan S, Lin M, Saragovi HU, Ge J. Pro370Leu MYOC gene mutation in a large Chinese family with Juvenile-onset open angle glaucoma: correlation between genotype and phenotype. Mol Vis 2008; 14:1533-1539.
34. Allingham RR, Wiggs JL, De La Paz MA, Vollrath D, Tallett DA. Gln368STOP myocilin mutation in families with lateonset primary open-angle glaucoma. Invest Ophthalmol Vis Sci 1998; 39:2288-2295.
35. Angius A, Spinelli P, Ghilotti G, Casu G, Sole G, Loi A, Totaro A, Zelante L, Gasparini P, Orzalesi N, Pirastu M, Bonomi L. Myocilin Gln368stop mutation and advanced age risk factors for late-onset primary open-angle glaucoma. Arch Ophthalmol 2000; 118:674-679.
36. Wirtz MK, Samples JR, Choi D. gaudette ND. Clinical features associated with an Asp380His myocilin mutation in a USA family with primary open angle glaucoma. Am J Ophthalmol 2007; 144:75-80.