Analysis of MYOC gene mutation in a Chinese glaucoma family with primary open-angle glaucoma and primary congenital glaucoma

Chinese Medical Journal

Volumn 119, Issue 14, 2006, Pages 1210-1214

  Zhuo, Ye Hong ^a   Wang, Mei ^a   Wei, Yan Tao ^a   Huang, Ya Lin ^a   Ge, Jian ^a  

^a SUN YAT SEN UNIVERSITY   (China)

Author keywords

Glaucoma; Mutation; Myocilin

Indexed keywords

MYOCILIN;

ADULT; ARTICLE; CASE REPORT; CHINESE; CONGENITAL GLAUCOMA; DNA SEQUENCE; EXON; FEMALE; GENE IDENTIFICATION; GENE MUTATION; GENE SEQUENCE; GENETIC CODE; GENETIC SCREENING; GENETIC SUSCEPTIBILITY; HOMOZYGOSITY; HUMAN; INTRAOCULAR PRESSURE ABNORMALITY; INTRON; MALE; MUTATIONAL ANALYSIS; NUCLEAR FAMILY; NUCLEOTIDE SEQUENCE; OPEN ANGLE GLAUCOMA; OPTIC DISK; PATHOGENESIS; PEDIGREE ANALYSIS; POLYMERASE CHAIN REACTION; PRESCHOOL CHILD; VISUAL SYSTEM EXAMINATION;

EID: 33746349553     PISSN: 03666999     EISSN: None     Source Type: Journal    
DOI: 10.1097/00029330-200607020-00015     Document Type: Article

References (24)

1. Quigley HA. Number of people with glaucoma worldwide. Br J Ophthamol 1996; 80: 389-393.
2. Stone EM, Fingert JH, Alward WLM, Nguyen TD, Polansky JR, Sunden SL, et al. Identification of a gene that causes primary open angle glaucoma. Science 1997; 275: 668-670.
3. Ge J, Zhuo Y, Guo Y, Yin W. Gene mutation in patients with primary open-angle glaucoma in a pedigree in China. Chin Med J 2000; 113: 195-197.
4. Faucher M, Anctil JL, Rodrigue MA, Duchesne A, Bergeron D, Blondeau P, et al. Founder TIGR/myocilin mutations for glaucoma in the Quebec population. Hum Mol Genet 2002; 11: 2077-2090.
5. Kennan AM, Mansergh FC, Fingert JH, Clark T, Ayuso C, Kenna PF, et al. A novel Asp380Ala mutation in the GLC1A/myocilin gene in a family with juvenile onset primary open angle glaucoma.J Med Genet 1998;35:957-960.
6. Suzuki Y, Shirato S, Taniguchi F, Ohara K, Nishimaki K, Ohta S. Mutation in TIGR gene in familial primary open angle glaucoma in Japan. Am J Hum Genet 1997; 61: 1202-1204.
7. Mabuchi F, Yamagata Z, Kashiwagi K, Ishijima K, Tang S, Iijima H, et al. A sequence change (Arg158Gln) in the leucine zipper-like motif region of the MYOC/TIGR protein. J Hum Genet 2001; 46:85-89.
8. Pang CP, Leung YF, Fan B, Baum L, Tong WC, Lee WS, et al. TIGR/MYOC gene sequence alterations in individuals with and without primary open-angle glaucoma. Invest Ophthalmol Vis Sci 2002; 43: 3231-3235.
9. Shimizu S, Lichter PR, Johnson AT, Zhou Z, Higashi M, Gottfredsdottir M, et al. Age-dependent prevalence of mutations at the GLC1A locus in primary open-angle glaucoma. Am J Ophthalmol 2000;130:165-177.
10. Chakrabarti S, Kaur K, Komatireddy S, Acharya M, Devi KR, Mukhopadhyay A, et al. Gln48His is the prevalent myocilin mutation in primary open angle and primary congenital glaucoma phenotype in India. Molecular Vision 2005; 11: 111-113.
11. Kaur K, Reddy ABM, Mukhopadhyay A, Mandal AK, Hasnain SE, Ray K, et al. Myocilin gene implicated in primary congenital glaucoma. Clin Genet 2005; 67: 335-340.
12. Swiderski RE, Ross JL, Fingert JH, Clark AF, Alward WL, Stone EM, et al. Localization of MYOC transcripts in human eye and optic nerve by in situ hybridization. Invest Ophthalmol Vis Sci 2000;41:3420-3428.
13. Hardy KM, Hoffman EA, Gonzalez P, McKay BS, Stamer WD. Extracellular trafficking of myocilin in human trabecular meshwork cells. J Biol Chem 2005;280:28917-28926.
14. Joe MK, Sohn S, Hur W, Moon Y, Choi YR, Kee C. Accumulation of mutant myocilins in ER leads to ER stress and potential cytotoxicity in human trabecular meshwork cells. Biochem Biophys Res Commun 2003; 312:592-600.
15. Tan JC, Peters DM, Kaufman PL. Recent developments in understanding the pathophysiology of elevated intraocular pressure. Curr Opin Ophthalmol 2006; 17:168-174.
16. Clark AF, Steely HT, Dickerson JE Jr, English-Wright S, Stropki K, Mc Cartney MD, et al. Glucocorticoid induction of the glaucoma gene MYOC in human and monkey trabecular meshwork cells and tissues. Invest Ophthalmol Vis Sci 2001; 42:1769-1780.
17. Fautsch MP, Bahler CK, Jewison DJ, Johnson DH. Recombinant TIGR/MYOC increases oufflow resistance in the human anterior segment. Invest Ophthalmol Vis Sci 2000; 41:4163-4168.
18. Fan BJ, Leung DY, Wang DY, Gobeil S, Raymond V, Tam PO, et al. Novel myocilin mutation in a Chinese family with juvenile-onset open-angle glaucoma. Arch Ophthalmol 2006;124:102-106.
19. Tamm ER, Russell P. The role of myocilin/TIGR in glaucoma: results of the Glaucoma Research Foundation catalyst meeting in Berkeley, California, March 2000. J Glaucoma 2001;10:329-339.
20. Brockmoller J, Cascorbi I, Kerb R, Sachse C, Roots I. Polymorphisms in xenobiotic conjugation and disease predisposition. Toxicol Lett 1998;102-103:173-183.
21. Klett CP, Bonner TI. Identification and characterization of the rat M1 muscarinic receptor promoter. J Neurochem 1999;72:900-909.
22. Kim CH, Kim HS, Cubells JF, Kim KS. A previously undescribed intron and extensive 5′ upstream sequence, but not Phox2a-mediated transactivation, are necessary for high level cell type-specific expression of the human norepinephrine transporter gene. J Biol Chem 1999; 274:6507-6518.
23. Wiggs JL, Allingham RR, Vollrath D, Jones KH, De La Paz M, Kern J, et al. Prevalence of mutations in TIGR/Myocilin in patients with adult and juvenile primary open-angle glaucoma. Am J Hum Genet 1998; 63:1549-1552.
24. Shimizu S, Lichter PR, Johnson AT, Zhou Z, Higashi M, Gottfredsdottir M, et al. Age-dependent prevalence of mutations at the GLC1A locus in primary open-angle glaucoma. Am J Ophthalmol 2000; 130:165-177.