Two novel myocilin mutations in a Chinese family with primary open-angle glaucoma

Molecular Vision

Volumn 14, Issue , 2008, Pages 1666-1672

  Xie, Xiaobing ^a   Zhou, Xin ^a   Qu, Xiying ^a   Wen, Jing ^b   Tian, Yanli ^a   Zheng, Fang ^a  

^a WUHAN UNIVERSITY   (China)

^b RENMIN HOSPITAL OF WUHAN UNIVERSITY   (China)

Author keywords

[No Author keywords available]

Indexed keywords

ADENOSINE; ARGININE; CYTIDINE; GLUTAMINE; GUANOSINE; LEUCINE; LYSINE; MYOCILIN; PROLINE; THYMIDINE;

ADULT; AGED; ALLELE; AMINO ACID SEQUENCE; AMINO ACID SUBSTITUTION; ARTICLE; AUTOSOMAL DOMINANT INHERITANCE; CHINESE; CONTROLLED STUDY; FAMILY STUDY; FEMALE; GENE MUTATION; GENETIC LINKAGE; HUMAN; INTRAOCULAR HYPERTENSION; MAJOR CLINICAL STUDY; MALE; MUTATIONAL ANALYSIS; NUCLEIC ACID BASE SUBSTITUTION; OPEN ANGLE GLAUCOMA; OPTIC DISK; PEDIGREE ANALYSIS; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; RESTRICTION FRAGMENT LENGTH POLYMORPHISM; VISUAL FIELD DEFECT;

ADOLESCENT; ADULT; AGED; ASIAN CONTINENTAL ANCESTRY GROUP; BASE SEQUENCE; CHINA; CYTOSKELETAL PROTEINS; DNA MUTATIONAL ANALYSIS; EYE PROTEINS; FEMALE; GLAUCOMA, OPEN-ANGLE; GLYCOPROTEINS; HUMANS; MALE; MIDDLE AGED; MOLECULAR SEQUENCE DATA; MUTANT PROTEINS; MUTATION; PEDIGREE; PHENOTYPE; PROTEIN STRUCTURE, SECONDARY; VISUAL FIELDS;

EID: 51549109123     PISSN: None     EISSN: 10900535     Source Type: Journal    
DOI: None     Document Type: Article

References (25)

1. Foster PJ, Oen FT, Machin D, Ng TP, Devereux JG, Johnson GJ, Khaw PT, Seah SK. The prevalence of glaucoma in Chinese residents of Singapore: a cross-sectional population survey of the Tanjing Paper district. Arch Ophthalmol 2000; 118:1105-11.
2. Fan BJ, Leung YF, Wang N, Lam SC, Liu Y, Tam OS, Pang CP. Genetic and environmental risk factors for primary open-angle glaucoma. Chin Med J (Engl) 2004; 117:706-10.
3. Alward WL. The genetics of open-angle glaucoma: the story of GLC1A and myocilin. Eye 2000; 14:429-36.
4. Mukhopadhyay A, Acharya M, Mukherjee S, Ray J, Choudhury S, Khan M, Ray K. Mutations in MYOC gene of Indian primary open angle glaucoma Patients. Mol Vis 2002; 8:442-8.
5. Lam DS, Leung YF, Chua JK, Baum L, Fan DS, Choy KW, Pang CP. Truncations in the TIGR gene in individuals with and without primary open-angle glaucoma. Invest Ophthalmol Vis Sci 2000; 41:1386-91.
6. Adam MF, Belmouden A, Binisti P, Brézin 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; 6:2091-7.
7. 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; 63:1549-52.
8. Jansson M, Marknell T, Tomic L, Larsson LI, Wadelius C. Allelic variants in the MYOC/TIGR gene in patients with primary openangle, exfoliative glaucoma and unaffected controls. Ophthalmic Genet 2003; 24:103-10.
9. 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.
10. Faucher M, Anctil JL, Rodrigue MA, Duchesne A, Bergeron D, Blondeau P, Cote G, Dubois S, Bergeron J, Arseneault R, Morissette J, Raymond V, Quebec Glaucoma Network. Founder TIGR/myocilin mutations for glaucoma in the Quebec population. Hum Mol Genet 2002; 11:2077-90.
11. Aldred MA, Baumber L, Hill A, Schwalbe EC, Goh K, Karwatowski W, Trembath RC. Low prevalence of MYOC mutations in UK primary open-angle glaucoma patients limits the utility of genetic testing. Hum Genet 2004; 115:428-31.
12. Petersen MB, Kitsos G, Samples JR, Gaudette ND, Economou-Petersen E, Sykes R, Rust K, Grigoriadou M, Aperis G, Choi D, Psilas K, Craig JE, Kramer PL, Mackey DA, Wirtz MK. A large GLC1C Greek family with a myocilin T377M mutation: inheritance and phenotypic variability. Invest Ophthalmol Vis Sci 2006; 47:620-5.
13. Weisschuh N, Neumann D, Wolf C, Wissinger B, Gramer E. Prevalence of myocilin and optineurin sequence variants in German normal tension glaucoma patients. Mol Vis 2005; 11:284-7.
14. Vazquez CM, Herrero OM, Bastus BM, Perez VD. Mutations in the third exon of the MYOC gene in Spanish patients with primary open angle glaucoma. Ophthalmic Genet 2000; 21:109-15.
15. Alward WL, Fingert JH, Coote MA, Johnson AT, Lerner SF. Clinical features associated with mutations in the chromosome 1 open-angle glaucoma gene (GLC1A). N Engl J Med 1998; 338:1022-7.
16. Gobeil S, Letartre L, Raymond V. Functional analysis of the glaucoma-causing TTGR/myocilin protein: integrity of amino-terminal coiled-coil regions and olfactomedin homology domain is essential for extracellular adhesion and secretion. Exp Eye Res 2006; 82:1017-29.
17. Gong G, Kosoko-Lasaki O, Haynatzki GR, Wilson MR. Genetic dissection of myocilin glaucoma. Hum Mol Genet 2004; 13 Spec No 1:R91-102.
18. Lam DS, Leung YF, Chua JK, Baum L, Fan DS, Choy KW, Pang CP. Truncations in the TIGR gene in individuals with and without primary open-angle glaucoma. Invest Ophthalmol Vis Sci 2000; 41:1386-91.
19. Pang CP, Leung YF, Fan B, 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 open-angle glaucoma. Invest Ophthalmol Vis Sci 2002; 43:3231-5.
20. Aroca-Aguilar JD, Sanchez-Sanchez 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; 280:21043-51.
21. Petersen MB, Kitsos G, Samples JR, Gaudette ND, Economou-Petersen E, Sykes R, Rust K, Grigoriadou M, Aperis G, Choi D, Psilas K, Craig JE, Kramer PL, Mackey DA, Wirtz MKA. Large GLC1C Greek family with a myocilin T377M mutation: inheritance and phenotypic variability. Invest Ophthalmol Vis Sci 2006; 47:620-5.
22. Wang DY, Fan BJ, Canlas O, Tam PO, Ritch R, Lam DS, Fan DS, Pang CP. Absence of myocilin and optineurin mutations in a large Philippine family with juvenile onset primary open angle glaucoma. Mol Vis 2004; 10:851-6.
23. Deléage G, Roux B. An algorithm for protein secondary structure prediction based on class prediction. Protein Eng 1987; 1:289-94.
24. Frishman D, Argos P. Incorporation of non-local interactions in protein secondary structure prediction from the amino acid sequence. Protein Eng 1996; 9:133-42.
25. Garnier J, Osguthorpe DJ, Robson B. Analysis of the accuracy and implications of simple methods for predicting the secondary structure of globular proteins. J Mol Biol 1978; 120:97-120.