Pro370leu myocilin mutation in a Chinese pedigree with juvenileonset open angle glaucoma

Molecular Vision

Volumn 17, Issue , 2011, Pages 1449-1456

  Wei, Yan Tao ^a   Li, Yi qing ^a   Bai, Yu Jing ^a   Wang, Mei ^b   Chen, Jun hong ^c   Ge, Jian ^a   Zhuo, Ye Hong ^a  

^a SUN YAT SEN UNIVERSITY   (China)

^b SUN YAT SEN UNIVERSITY   (China)

^c Puning People's Hospital   (China)

Author keywords

[No Author keywords available]

Indexed keywords

ANTIGLAUCOMA AGENT; LEUCINE; MYOCILIN; PROLINE;

ADULT; AMINO ACID SUBSTITUTION; ARTICLE; BLOOD SAMPLING; CHINESE; CHROMOSOME 1; CLINICAL ARTICLE; CLINICAL FEATURE; DISEASE SEVERITY; EXON; FAMILY STUDY; FEMALE; FILTERING OPERATION; GENE MUTATION; GENOTYPE PHENOTYPE CORRELATION; HETEROZYGOSITY; HUMAN; INTRAOCULAR PRESSURE; LINKAGE ANALYSIS; MALE; NUCLEOTIDE SEQUENCE; ONSET AGE; OPEN ANGLE GLAUCOMA; PATHOGENESIS; PEDIGREE ANALYSIS; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; SEQUENCE ANALYSIS; TREATMENT OUTCOME; VISUAL SYSTEM EXAMINATION;

ADOLESCENT; ADULT; AGE OF ONSET; ASIAN CONTINENTAL ANCESTRY GROUP; BASE SEQUENCE; CHILD; CHROMOSOMES, HUMAN, PAIR 1; CYTOSKELETAL PROTEINS; EYE PROTEINS; FEMALE; GENETIC ASSOCIATION STUDIES; GENETIC LINKAGE; GENETIC LOCI; GENETIC TESTING; GENOTYPE; GLAUCOMA, OPEN-ANGLE; GLYCOPROTEINS; HETEROZYGOTE; HUMANS; MALE; MOLECULAR SEQUENCE DATA; MUTATION; OCULAR HYPERTENSION; PEDIGREE; PHENOTYPE; REVERSE TRANSCRIPTASE POLYMERASE CHAIN REACTION; SEQUENCE ANALYSIS, DNA; TOMOGRAPHY, OPTICAL COHERENCE; VISUAL ACUITY;

EID: 79959200848     PISSN: None     EISSN: 10900535     Source Type: Journal    
DOI: None     Document Type: Article

References (35)

1. Quigley HA, Broman AT. The number of people with glaucoma worldwide in 2010 and 2020. Br J Ophthalmol 2006; 90:262-267. [PMID: 16488940]
2. Quigley HA, Vitale S. Models of open angle glaucoma prevalence and incidence in the United States. Invest Ophthalmol Vis Sci 1997; 38:83-91. [PMID: 9008633]
3. WuDunn D. Genetic basis of glaucoma. Curr Opin Ophthalmol 2002; 13:55-60. [PMID: 11880716]
4. Sheffield VC, Stone EM, Alward WL, Drack AV, Johnson AT, Streb LM, Nichols BE. Genetic linkage of familial open angle glaucoma to chromosome 1-q21-q23. Nat Genet 1993; 4:47-50. [PMID: 8513321]
5. 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. Identification of a gene that causes primary open angle glaucoma. Science 1997; 275:668-670. [PMID: 9005853]
6. 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. [PMID: 11834836]
7. 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. [PMID: 15677485]
8. Hewitt AW, Mackey DA, Craig JE. Myocilin Allele-Specific Glaucoma Phenotype Database. Hum Mutat 2008; 29:207-211. [PMID: 17966125]
9. 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. [PMID: 18728751]
10. Fingert JH, Héon 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. [PMID: 10196380]
11. Kanagavalli J, Pandaranayaka E, Krishnadas SR, Krishnaswamy S, Sundaresan P. A review of genetic and structural understanding of the role of myocilin in primary open angle glaucoma. Indian J Ophthalmol 2004; 52:271-280. [PMID: 15693317]
12. Gong G, Kosoko-Lasaki O, Haynatzki GR, Wilson MR. Genetic dissection of myocilin glaucoma. Hum Mol Genet 2004; 13:91-101. [PMID: 14613972]
13. 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. [PMID: 16636654]
14. Xie X, Zhou X, Qu X, Wen J, Tian Y, Zheng F. Two novel myocilin mutations in a Chinese family with primary open angle glaucoma. Mol Vis 2008; 14:1666-1672. [PMID: 18776955]
15. 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. [PMID: 16401791]
16. Zhao X, Yang C, Tong Y, Zhang X, Xu L, Li Y. Identification a novel MYOC gene mutation in a Chinese family with juvenile-onset open angle glaucoma. Mol Vis 2010; 16:1728-1735. [PMID: 20806035]
17. Allingham RR, Wiggs JL, De La Paz MA, Vollrath D, Tallett DA, Broomer B, Jones KH, Del Bono EA, Kern J, Patterson K, Haines JL, Pericak-Vance MA. Gln368STOP myocilin mutation in families with late-onset primary open-angle glaucoma. Invest Ophthalmol Vis Sci 1998; 39:2288-2295. [PMID: 9804137]
18. Mackey DA, Healey DL, Fingert JH, Coote MA, Wong TL, Wilkinson CH, McCartney PJ, Rait JL. Glaucoma Phenotype in Pedigrees With the Myocilin Thr377Met Mutation. Arch Ophthalmol 2003; 121:1172-1180. [PMID: 12912696]
19. Puska P, Lemmelä S, Kristo P, Sankila EM, Järvelä I. Penetrance and phenotype of the Thr377Met Myocilin mutation in a large Finnish family with juvenile- and adultonset primary open-angle glaucoma. Ophthalmic Genet 2005; 26:17-23. [PMID: 15823921]
20. Fingert JH, Stone EM, Sheffield VC, Alward WL. Myocilin glaucoma. Surv Ophthalmol 2002; 47:547-561. [PMID: 12504739]
21. Stoilova D, Child A, Brice G. Novel TIGR /MYOC mutations in families with juvenile onset primary open angle glaucoma. J Med Genet 1998; 35:989-992. [PMID: 9863594]
22. Rozsa FW, Shimizu S, Lichter PR, Johnson AT, Othman MI, Scott K, Downs CA, Nguyen TD, Polansky J, Richards JE. GLC1A mutations point to regions of potential functional importance on the TIGR /MYOC protein. Mol Vis 1998; 4:20-35. [PMID: 9772276]
23. Suzuki Y, Shirato S, Taniguchi F, Ohara K, Nishimaki K, Ohta S. Mutations in the TIGR gene in familial primary open-angle glaucoma in Japan. Am J Hum Genet 1997; 61:1202-1204. [PMID: 9345106]
24. Campos-Mollo E, Sánchez-Sánchez F, López-Garrido MP, López-Sánchez E, López-Martínez F, Escribano J. MYOC gene mutations in Spanish patients with autosomal dominant primary open-angle glaucoma: a founder effect in southeast Spain. Mol Vis 2007; 13:1666-1673. [PMID: 17893668]
25. Rose R, Karthikeyan M, Anandan B, Jayaraman G. Myocilin mutations among primary open angle glaucoma patients of Kanyakumari district. South India. Mol Vis 2007; 13:497-503. [PMID: 17417611]
26. Povoa CA, Malta RF, Rezende Mde M, de Melo KF, Giannella-Neto D. Correlation between genotype and phenotype in primary open angle glaucoma of Brazilian families with mutations in exon 3 of the TIGR/MYOC gene. Arq Bras Oftalmol 2006; 69:289-297. [PMID: 16936947]
27. Wang L, Zhuo Y, Liu B, Huang S, Hou F, Ge J. Pro370Leu mutant myocilin disturbs the endoplasm reticulum stress response and mitochondrial membrane potential in human trabecular meshwork cells. Mol Vis 2007; 13:618-625. [PMID: 17515882]
28. Liu Y, Vollrath D. Reversal of mutant myocilin non-secretion and cell killing: implications for glaucoma. Hum Mol Genet 2004; 13:1193-1204. [PMID: 15069026]
29. Sohn S, Hur W, Joe MK, Kim JH, Lee ZW, Ha KS, Kee C. Expression of wild-type and truncated myocilins in trabecular meshwork cells: their subcellular localizations and cytotoxicities. Invest Ophthalmol Vis Sci 2002; 43:3680-3685. [PMID: 12454036]
30. 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. [PMID: 14680806]
31. Aroca-Aguilar JD, Sánchez-Sánchez F, Ghosh S, Coca-Prados M, Escribano J. Myocilin mutations causing glaucoma inhibit the intracellular endoproteolytic cleavage of myocilin between amino acids Arg226 and Ile227. J Biol Chem 2005; 280:21043-21051. [PMID: 15795224]
32. Nguyen TD, Chen P, Huang WD, Chen H, Johnson D, Polansky JR. Gene structure and properties of TIGR, an olfactomedinrelated glycoprotein cloned from glucocorticoid-induced trabecular meshwork cells. J Biol Chem 1998; 273:6341-6350. [PMID: 9497363]
33. 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. [PMID: 9792882]
34. Mackey DA, Craig JE. Predictive DNA testing for glaucoma: reality in 2003. Ophthalmol Clin North Am 2003; 16:639-645. [PMID: 14741004]
35. Wei YT, Zhuo YH, Li YQ, Chai F, Lin MK, Ling YL, Ge J. Gene screening as the forewarning measure to predict glaucoma. Zhonghua Yan Ke Za Zhi 2009; 45:621-624. [PMID: 19957690]