Founder TIGR/myocilin mutations for glaucoma in the Québec population

Human Molecular Genetics

Volumn 11, Issue 18, 2002, Pages 2077-2090

  Faucher, Mathieu ^a   Anctil, Jean Louis ^a   Rodrigue, Marc André ^a   Duchesne, Annie ^a   Bergeron, Dan ^a   Blondeau, Pierre ^b   Côté, Gilles ^a   Dubois, Stéphane ^a   Bergeron, Josée ^a   Arseneault, Rose ^a   Amyot, M ^c   Assalian, A ^c   Balazsi, G A ^c   Bergeron, E ^c   Brais, P ^c   Carignan, J ^c   Carriere M ^c   Cortin, P ^c   Deschenes C ^c   Des Marchais, B ^c   Doyon, G ^c   Dube Y ^c   Dugre J ^c   Dumas, B ^c   Duperre J ^c   Fanous, S ^c   Fortin, C ^c   Gauthier, D ^c   Goyette, A ^c   Gravel, C ^c   Guay, F ^c   Guertin, B J ^c   Hladky, E N ^c   Isabelle, N ^c   Kasner, O P ^c   Labrecque, N ^c   Laflamme, P ^c   Lafond, G ^c   Lahoud, S ^c   Lalonde, G ^c   Lavallee J L ^c   Leblanc, J P ^c   Lesk, M ^c   Malenfant, M ^c   Molgat, Y ^c   Morency, J ^c   Morrissette, R ^c   Robidas, L ^c   Samson, J ^c   Smith, G ^c   Turcotte, P ^c   Morissette, Jean ^a   Raymond, Vincent ^a   more..

^a LAVAL UNIVERSITY   (Canada)

^b CENTRE HOSPITALIER UNIVERSITAIRE DE SHERBROOKE   (Canada)

^c CHUL ^*

Author keywords

[No Author keywords available]

Indexed keywords

ALANINE; ARGININE; GLUTAMIC ACID; GLUTAMINE; GLYCINE; LEUCINE; LYSINE; MYOCILIN; PROLINE; THREONINE; TRYPTOPHAN; VALINE;

ADULT; AGED; ALLELE; ARTICLE; CANADA; CLINICAL FEATURE; CONTROLLED STUDY; DISEASE ASSOCIATION; DISEASE COURSE; FAMILY HISTORY; FAMILY STUDY; FEMALE; FOUNDER EFFECT; FRANCE; GENE FREQUENCY; GENE MUTATION; GENE SEGREGATION; GENE SEQUENCE; GENETIC ANALYSIS; GENETIC CODE; GENETIC RECOMBINATION; GENETIC SCREENING; GENETIC VARIABILITY; HETEROZYGOTE; HUMAN; INHERITANCE; INTRAOCULAR HYPERTENSION; MAJOR CLINICAL STUDY; MALE; NERVE DEGENERATION; ONSET AGE; OPEN ANGLE GLAUCOMA; OPTIC NERVE DISEASE; POPULATION GENETICS; PREVALENCE; PRIORITY JOURNAL; RELATIVE;

EID: 18544373561     PISSN: 09646906     EISSN: None     Source Type: Journal    
DOI: 10.1093/hmg/11.18.2077     Document Type: Article

References (51)

1. The global impact of glaucoma
2. The epidemiology of open-angle glaucoma: A review
3. Prevalence of primary chronic open-angle glaucoma in Ivory Coast
4. Glaucoma genetics, present and future
5. Molecular genetics of the glaucomas: Mapping of the first five 'GLC' loci
6. Genetic linkage of familial open-angle glaucoma to chromosome 1q21-q31
7. Localization of a locus (GLC1B) for adult-onset primary open-angle glaucoma to the 2cen-q13 region
8. Mapping a gene for adult-onset primary open-angle glaucoma to chromosome 3q
9. A third locus (GLC1D) for adult-onset primary open-angle glaucoma maps to the 8q23 region
10. Localization of the fourth locus (GLC1E) for adult-onset primary open-angle glaucoma to the 10p15-p14 region
11. GLC1F, a new primary open-angle glaucoma locus, maps to 7q35-q36
12. Identification of a gene that causes primary open-angle glaucoma
13. A novel myosin-like protein (myocilin) expressed in the connecting cilium of the photoreceptor: Molecular cloning, tissue expression, and chromosomal mapping
14. Analysis of myocilin mutations in 1703 glaucoma patients from five different populations
15. Clinical features associated with mutations in the chromosome 1 open-angle glaucoma gene (GLC1A)
16. Digenic inheritance of early-onset glaucoma: CYP1B1, a potential modifier gene
17. Founder effect in GLC1A-linked familial open-angle glaucoma in Northern France
18. Low-tension glaucoma
19. Familial hypercholesterolemia in French-Canadians: Taking advantage of the presence of a 'founder effect'
20. Genetic epidemiology of BRCA1 mutations in Norway
21. Dissecting a population genome for targeted screening of disease mutations
22. A frameshift mutation in exon 28 of the OPA1 gene explains the high prevalence of dominant optic atrophy in the Danish population: Evidence for a founder effect
23. Human genetics: Lessons from Quebec populations
24. Novel mutations in the TIGR gene in early- and late-onset open-angle glaucoma
25. Juvenile open-angle glaucoma: Fine mapping of the TIGR gene to 1q24.3-q25.2 and mutation analysis
26. The Gly367Arg mutation in the myocilin gene causes adult-onset primary open-angle glaucoma
27. Myocilin Gln368stop mutation and advanced age as risk factors for late-onset primary open-angle glaucoma
28. A GLC1A gene Gln368Stop mutation in a patient with normal-tension open-angle glaucoma
29. Age-dependent prevalence of mutations at the GLC1A locus in primary open-angle glaucoma
30. Mutations in the third exon of the MYOC gene in spanish patients with primary open-angle glaucoma
31. Prevalence of mutations in TIGR/myocilin in patients with adult and juvenile primary open-angle glaucoma
32. Evidence for genetic heterogeneity within eight glaucoma families, with the GLC1A Gln368STOP mutation being an important phenotypic modifier
33. Homozygotes carrying an autosomal dominant TIGR mutation do not manifest glaucoma
34. The genetic aspects of adult-onset glaucoma: A perspective from the Greater Toronto area
35. Gln368STOP myocilin mutation in families with late-onset primary open-angle glaucoma
36. A common gene for juvenile and adult-onset primary open-angle glaucomas confined on chromosome 1q
37. Changes in mRNA levels of the Myoc/Tigr gene in the rat eye after experimental elevation of intraocular pressure or optic nerve transection
38. Characterization of the mouse Myoc/Tigr gene
39. Molecular cloning of the bovine MYOC and induction of its expression in trabecular meshwork cells
40. Cloning and characterization of porcine MYOC in cultured porcine trabecular meshwork cells and astrocytes from optic nerve head [ARVO Abstract]
41. Recurrent mutations in a single exon encoding the evolutionarily conserved olfactomedin-homology domain of TIGR in familial open-angle glaucoma Hum
42. Use of population isolates for mapping complex traits
43. A comprehensive genetic map of the human genome based on 5,264 microsatellites
44. A 10-cM YAC contig spanning GLC1A, the primary open-angle glaucoma locus at 1q23-q25
45. A new statistical method for haplotype reconstruction from population data
46. Non-secretion of mutant proteins of the glaucoma gene myocilin in cultured trabecular meshwork cells and in aqueous humor
47. New estimates of intergenerational time intervals for the calculation of age and origins of mutations
48. The genetics of open-angle glaucoma: The story of GLC1A and myocilin
49. Fragmentation of the Quebec population genetic pool (Canada): Evidence from the genetic contribution of founders per region in the 17th and 18th centuries
50. The requisites in ophthalmology
51. Descent graphs in pedigree analysis: Applications to haplotyping, location scores, and marker-sharing statistics