MYOC gene mutations in Spanish patients with autosomal dominant primary open-angle glaucoma: A founder effect in southeast Spain

Molecular Vision

Volumn 13, Issue , 2007, Pages 1666-1673

  Campos Mollo, Ezequiel ^a,b   Sánchez Sánchez, Francisco ^c   López Garrido, María Pilar ^c   López Sánchez, Enrique ^d   López Martínez, Francisco ^e   Escribano, Julia ^c  

^a HOSPITAL VIRGEN DE LOS LIRIOS   (Spain)

^b HOSPITAL GENERAL UNIVERSITARIO DE ALICANTE   (Spain)

^c Universidad de Castilla La Mancha   (Spain)

^d HOSPITAL ARNAU DE VILANOVA   (Spain)

^e HOSPITAL GENERAL UNIVERSITARIO DE ALBACETE   (Spain)

Author keywords

[No Author keywords available]

Indexed keywords

CYTOCHROME P450 1B1; HYPERTENSIVE AGENT; MYOCILIN;

ADOLESCENT; ADULT; ARTICLE; AUTOSOMAL DOMINANT DISORDER; CLINICAL ARTICLE; CONTROLLED STUDY; DELAYED DIAGNOSIS; DNA SEQUENCE; FAMILY STUDY; FEMALE; FOUNDER EFFECT; GENE FUNCTION; GENE MUTATION; GENE SEGREGATION; GENETIC POLYMORPHISM; GENETIC SCREENING; HAPLOTYPE; HIGH RISK PATIENT; HISPANIC; HUMAN; INHERITANCE; INTRAOCULAR PRESSURE ABNORMALITY; MALE; MICROSATELLITE MARKER; OPEN ANGLE GLAUCOMA; PHENOTYPE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; RETROSPECTIVE STUDY; SCHOOL CHILD; SPAIN; TRABECULECTOMY; VISUAL IMPAIRMENT;

ADOLESCENT; ADULT; AGE OF ONSET; CHILD; CHILD, PRESCHOOL; COLOMBIA; CYTOSKELETAL PROTEINS; EYE PROTEINS; FEMALE; FOUNDER EFFECT; GENES, DOMINANT; GLAUCOMA, OPEN-ANGLE; GLYCOPROTEINS; HAPLOTYPES; HUMANS; LEUCINE; MALE; MIDDLE AGED; MUTATION; PEDIGREE; PHENOTYPE; PROLINE; RETROSPECTIVE STUDIES; SPAIN;

EID: 34748893581     PISSN: None     EISSN: 10900535     Source Type: Journal    
DOI: None     Document Type: Article

References (41)

1. Johnson AT,Drack AV,Kwitek AE, Cannon RL, Stone EM,Alward WL. Clinical features and linkage analysis of a family with autosomal dominant juvenile glaucoma. Ophthalmology 1993; 100:524-9.
2. Lichter PR. Genetics of the glaucomas. J Glaucoma 2001; 10:S13-5
3. Challa P. Glaucoma genetics: advancing new understandings of glaucoma pathogenesis. Int Ophthalmol Clin 2004; 44:167-85.
4. Goldwyn R, Waltman SR, Becker B. Primary open-angle glaucoma in adolescents and young adults. Arch Ophthalmol 1970; 84:579-82.
5. Wiggs JL, Del Bono EA, Schuman JS, Hutchinson BT, Walton DS. Clinical features of five pedigrees genetically linked to the juvenile glaucoma locus on chromosome 1q21-q31. Ophthalmology 1995; 102:1782-9.
6. Fan BJ, Wang DY, Lam DS, Pang CP. Gene mapping for primary open angle glaucoma. Clin Biochem 2006: 39:249-58.
7. Baird PN, Foote SJ, Mackey DA, Craig J, Speed TP, Bureau A. Evidence for a novel glaucoma locus at chromosome 3p21-22. Hum Genet 2005; 117:249-57.
8. Fan BJ, Ko WC, Wang DY, Canlas O, Ritch R, Lam DS, Pang CP. Fine mapping ofnew glaucoma locus GLC1M and exclusion of neuregulin 2 as the causative gene. Mol Vis 2007; 13:779-84.
9. Wang DY, Fan BJ, Leung DY, Tham CC, Tam PO, Lam DS, Pang C.P. Strong association of SLC24A1 at GLC1N with susceptibiilty to primary open angle glaucoma. ARVO Annual Meeting. 2007 May 6-10; Fort Lauderdale (FL).
10. 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; 121:1034-8.
11. 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.
12. 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 GLClA locus in primary open-angle glaucoma. Am J Ophthalmol 2000; 130:165-77.
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 olfactomedin-homology domain of TIGR in familial open-angle glaucoma. Hum Mol Genet 1997;6:2091-7.
14. 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, Cravin ER, Sheffield VC. Identification of a gene that causes primary open angle glaucoma. Science 1997; 275:668-70.
15. Alward WL, Fingert, JH, Coote MA, Johnson AT, Lerner SF, Junqua D, Durcan FJ, McCartney PJ, Mackey DA, Sheffield VC, Stone EM. Clinical features associated with mutations in the chromosome 1 open-angle glaucoma gene (GLC1A). N Engl J Med 1998; 338:1022-7.
16. Kubota R, Noda S, Wang Y, Minoshima S, Asakawa S, Kudoh J, Mashima Y, Oguchi Y, Shimizu N. A novel myosin-like protein (myocilin) expressed in the connecting cilium of the photore-ceptor: molecular cloning, tissue expression, and chromosomal mapping. Genomics 1997; 41:360-9.
17. Ortego J, Escribano J, Coca-Prados M. Cloning and characterization of subtracted cDNAs from a human ciliary body library encoding TIGR, a protein involved in juvenile open angle glaucoma with homology to myosin and olfactomedin. FEBS Lett 1997; 413:349-53.
18. Alward WL, Kwon YH, Khanna CL, Johnson AT, Hayreh SS, Zimmerman MB, Narkiewicz J, Andorf JL, Moore PA, Fingert JH, Sheffield VC, Stone EM. Variations in the myocilin gene in patients with open-angle glaucoma. Arch Ophthalmol 2002; 120:1189-97.
19. Lopez-Martinez F, Lopez-Garrido MP. Sanchez-Sanchez F, Campos-Mollo E, Coca-Prados M, Escribano J. Role of MYOC and OPTN sequence variations in Spanish patients with primary open-angle glaucoma. Mol Vis 2007.13:862-72.
20. 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; 11:2071 7-90.
21. Reeve JP, Rannala B. DMLE+: Bayesian linkage disequilibrium gene mapping. Bioinformatics 2002; 18:894-5.
22. Kaplan EL, Meier P. Nonparametric estimation from incomplete observations. J Am Stat Assoc 1958; 53:457-81.
23. Slatkin M, Rannala B. Estimating the age of alleles by use of intraallelic variability. Am J Hum Genet 1997; 60:447-58.
24. 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.
25. Vollrath D, Liu Y. Temperature sensitive secretion of mutant myocilins. Exp Eye Res 2006; 82:1030-6.
26. Gobeil S, Letartre L, Raymond V. Functional analysis of the glaucoma-causing TIGR/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.
27. Kennan AM, Mansergh FC, Fingert JH, Clark T, Ayuso C, Kenna PF, Humphries P, Farrar GJ. A novel Asp380Ala mutation in the GLClA/myocilin gene in a family with juvenile onset primary open angle glaucoma. J Med Genet 1998; 35:957-60.
28. Stoilova D, Child A, Brice G, Desai T, Barsoum-Homsy M, Ozdemir N, Chevrette L, Adam MF, Garchon HJ, Pitts Crick R, Sarfarazi M. Novel TIGR/ MYOC mutations in families with juvenile onset primary open angle glaucoma. J Med Genet 1998; 35:989-92.
29. Mansergh FC, Kenna PF, Ayuso C, Kiang AS, Humphries P, Farrar GJ. Novel mutations in the TIGR gene in early and late onset open angle glaucoma. Hum Mutat 1998; 11:244-51.
30. Wirtz MK, Samples JR, Choi D, Gaudette ND. Clinical features associated with an Asp380His Myocilin mutation in a US family with primary .open-angle glancoma. Am J Ophthalmol 2007; 144:75-80.
31. Challa P, Herndon LW, Hauser MA, Broomer BW, Pericak-Vance MA, Ababio-Danso B, Allingham RR. Prevalence of myocilin mutations in adults with primary open-angle glaucoma in Ghana, West Africa. J Glaucoma 2002; 11:416-20.
32. Raymond V. Molecular genetics of the glaucomas: mapping of the first five "GLC" loci. Am J Hum Genet 1997; 60:272-7.
33. Sarfarazi M. Recent advances in molecular genetics of glaucomas. Hum Mol Genet 1997; 6:1667-77.
34. Crombie AL, Cullen JF. Hereditary glaucoma occurrence in five generations of an Edinburgh family. Br J Ophthalmol 1964; 48:143-7.
35. Angius A, De Gioia E, Loi A, Fossarello M, Sole G, Orzalesi N, Grignolo F, Cao A, Pirastu M. A novel mutation in the GLClA gene causes juvenile open-angle glaucoma in 4 families from the Italian region of Puglia. Arch Ophthalmol 1998; 116:793-7.
36. Booth AP, Anwar R, Chen H, Churchill AJ, Jay J, Polansky J, Nguyen T, Markham AF. Genetic screening in a large family with juvenile onset primary open angle glaucoma. Br J Ophthalmol 2000; 84:722-6.
37. Mukhopadhyay A, Acharya M, Ray J, Khan M, Sarkar K, Banerjee AR, Ray K, Myocilin mutation 1109 C>T(Pro 370 Leu) is the most common gene defect causing early onset primary open angle glaucoma. Indian J Ophthalmol 2003; 51:279-81.
38. Rozsa FW, Shimuzu S, Lichter PR, Johnson AT, Othman MI, Scott K, Downs CA, Nguyen TD, Polansky J, Richards JE. GLClA mutations point to regions of potential functional importance on the TIGR/MYOC protein. Mol Vis 1998; 4:20.
39. Brezin AP, Adam MF, Belmouden A, Lureau MA, Chaventre A, Copin B, Gomez L, De Dinechin SD, Berkani M, Valtot F, Rouland JF, Dascotte JC, Bach JF, Garchon HJ. Founder effect in GLClA-linked familial open-angle glaucoma in Northern France. Am J Med Genet 1998; 76:438-45.
40. Baird PN, Richardson AJ, Craig JE, Rochtchina E, Mackey DA, Mitchell P. The Q368STOP myocilin mutationin a population-based cohort: the Blue Mountains Eye Study, Am J Ophthalmol 2005; 139.1125-6.
41. Baird PN, Craig JE, Richardson AJ, Ring MA, Sim P, Stanwix S, Foote SJ, Mackey DA. Analysis of 15 primary open-angle glaucoma families from Australia identifies a founder effect for the Q368STOP mutation of myocilin. Hum Genet 2003; 112: 110-6.