Novel Mutations in the MYOC/GLC1A Gene in a Large Group of Glaucoma Patients
artículo original
Fecha
2002Autor
Michels Rautenstrauss, Karin G.
Mardin, Christian Y.
Nina, Wakili
Jünemann, Anselm M.
Villalobos, Luis
Mejía, Carlos Amando
Chavarría Soley, Gabriela
Azofeifa Navas, Jorge
Özbey, Sevinc
OH Naumann, Gottfried
Reis, André
Rautenstrauss, Bernd
Metadatos
Mostrar el registro completo del ítemResumen
Mutations at the myocflin (MYOC) gene within the GLC1A locus have been revealed in 2-
4% of patients suffering primary open angle glaucoma (POAG) worldwide. In our ongoing
glaucoma study sixhundred eighty two persons have been screend for MYOC mutations.
The first group consisted of 453 patients from a long-term clinical study diagnosed either
with juvenile OAG (JOAG), POAG, ocular hypertension (OHT) or normal tension glaucoma
(NTG) plus 22 cases of secondary glaucoma. This group, and additional 83 healthy controls,
is part of a long term study with repeated clinical examinations at the University of
Erlangen-Nurnberg. An additional sample of 124 glaucoma patients or at risk persons
referred from other sources were included in the mutation screening. Five novel mutations,
namely Gly434Ser, Asn450Asp, Va1251Ala, 11e345Met and Ser393Asn, could he identified as
cause of preperimetrk POAG, JOAG, normal tension POAG and POAG. Myocilln
mutations were identified similar with previous reports with other ethnic populations at the
rate of 11/341 (3.2%) probands
External link to the item
10.1002/humu.9092
Artículo científico -- Universidad de Costa Rica. Instituto de Investigaciones en Salud, 2002.
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