Prevalence of mutations in TIGR/myocilin in patients with adult and juvenile primary open-angle glaucoma

被引：176

作者：

Wiggs, JL

Allingham, RR

Vollrath, D

Jones, KH

De La Paz, M

Kern, J

Patterson, K

Rabb, VL

Del Bono, A

Broomer, BW

Pericak-Vance, MA

Haines, JL

机构：

[1] Tufts Univ, Sch Med, Boston, MA 02111 USA

[2] Tufts Univ, Sackler Sch Grad Biomed Sci, Boston, MA 02111 USA

[3] New England Med Ctr, Dept Ophthalmol, Boston, MA 02111 USA

[4] Duke Univ, Ctr Eye, Durham, NC USA

[5] Duke Univ, Ctr Human Genet, Durham, NC USA

[6] Stanford Univ, Sch Med, Dept Genet, Stanford, CA 94305 USA

[7] Vanderbilt Univ, Nashville, TN USA

来源：

AMERICAN JOURNAL OF HUMAN GENETICS | 1998年 / 63卷 / 05期

关键词：

D O I：

10.1086/302098

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

引用

页码：1549 / 1552

页数：4

共 23 条

[1] Recurrent mutations in a single exon encoding the evolutionarily conserved olfactomedin-homology domain of TIGR in familial open-angle glaucoma [J].

Adam, MF ;

Belmouden, A ;

Binisti, P ;

Brezin, AP ;

Valtot, F ;

Bechetoille, A ;

Dascotte, JC ;

Copin, B ;

Gomez, T ;

Chaventre, A ;

Bach, JF ;

Garchon, HJ .

HUMAN MOLECULAR GENETICS, 1997, 6 (12) :2091-2097

[2] Clinical features associated with mutations in the chromosome 1 open-angle glaucoma gene (GLCIA) [J].

Alward, WLM ;

Fingert, JH ;

Coote, MA ;

Johnson, AT ;

Lerner, SF ;

Junqua, D ;

Durcan, FJ ;

McCartney, PJ ;

Mackey, DA ;

Sheffield, VC ;

Stone, EM .

NEW ENGLAND JOURNAL OF MEDICINE, 1998, 338 (15) :1022-1027

[3] Exclusion of one pedigree affected by adult onset primary open angle glaucoma from linkage to the juvenile glaucoma locus on chromosome 1q21-q31 [J].

Avramopoulos, D ;

Kitsos, G ;

EconomouPetersen, E ;

Grigoriadou, M ;

Vassilopoulos, D ;

Papageorgiou, C ;

Psilas, K ;

Petersen, MB .

JOURNAL OF MEDICAL GENETICS, 1996, 33 (12) :1043-1044

[4] Recombinational and physical mapping of the locus for primary open-angle glaucoma (GLC1A) on chromosome 1q23-q25 [J].

Belmouden, A ;

Adam, MF ;

deDinechin, SD ;

Brezin, AP ;

Rigault, P ;

Chumakov, I ;

Bach, JF ;

Garchon, HJ .

GENOMICS, 1997, 39 (03) :348-358

[5]

GRAFF C, 1995, HUM GENET, V96, P285

[6] A novel myosin-like protein (Myocilin) expressed in the connecting cilium of the photoreceptor: Molecular cloning, tissue expression, and chromosomal mapping [J].

Kubota, R ;

Noda, S ;

Wang, YM ;

Minoshima, S ;

Asakawa, S ;

Kudoh, J ;

Mashima, Y ;

Oguchi, Y ;

Shimizu, N .

GENOMICS, 1997, 41 (03) :360-369

[7] THE EPIDEMIOLOGY OF OPEN-ANGLE GLAUCOMA - A REVIEW [J].

LESKE, MC .

AMERICAN JOURNAL OF EPIDEMIOLOGY, 1983, 118 (02) :166-191

[8] Homozygotes carrying an autosomal dominant TIGR mutation do not manifest glaucoma [J].

Morissette, J ;

Clépet, C ;

Moisan, S ;

Dubois, S ;

Winstall, E ;

Vermeeren, D ;

Nguyen, TD ;

Polansky, JR ;

Côté, G ;

Anctil, JL ;

Amyot, M ;

Plante, M ;

Falardeau, P ;

Raymond, V .

NATURE GENETICS, 1998, 19 (04) :319-321

[9]

NGUYEN TD, 1993, BASIC ASPECTS GLAUCO, V3, P331

[10] Number of people with glaucoma worldwide [J].

Quigley, HA .

BRITISH JOURNAL OF OPHTHALMOLOGY, 1996, 80 (05) :389-393

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