CYP1B1 Gene Analysis in Primary Congenital Glaucoma Brazilian Patients Novel Mutations and Association With Poor Prognosis

dc.creatorDella Paolera, M
dc.creatorde Vasconcellos, JPC
dc.creatorUmbelino, CC
dc.creatorKasahara, N
dc.creatorRocha, MN
dc.creatorRicheti, F
dc.creatorCosta, VP
dc.creatorTavares, A
dc.creatorde Melo, MB
dc.date2010
dc.dateMAR
dc.date2014-11-18T11:21:07Z
dc.date2015-11-26T16:54:24Z
dc.date2014-11-18T11:21:07Z
dc.date2015-11-26T16:54:24Z
dc.date.accessioned2018-03-28T23:41:41Z
dc.date.available2018-03-28T23:41:41Z
dc.identifierJournal Of Glaucoma. Lippincott Williams & Wilkins, v. 19, n. 3, n. 176, n. 182, 2010.
dc.identifier1057-0829
dc.identifierWOS:000275813600004
dc.identifier10.1097/IJG.0b013e3181a98bae
dc.identifierhttp://www.repositorio.unicamp.br/jspui/handle/REPOSIP/57560
dc.identifierhttp://www.repositorio.unicamp.br/handle/REPOSIP/57560
dc.identifierhttp://repositorio.unicamp.br/jspui/handle/REPOSIP/57560
dc.identifier.urihttp://repositorioslatinoamericanos.uchile.cl/handle/2250/1276850
dc.descriptionFundação de Amparo à Pesquisa do Estado de São Paulo (FAPESP)
dc.descriptionPurpose: To determine the spectrum of CYP1B1 gene mutations in Brazilian patients with primary congenital glaucoma, and to correlate the presence of alterations in the CYP1B1 gene sequence with clinical aspects of the disease. Materials and Methods: Thirty nonrelated patients with primary congenital glaucoma were studied. Molecular analysis consisted of the codifying region sequencing (exons 2 and 3) and intron/exon boundaries. Results: CYP1B1 gene mutations were present in 9 (30%) of the 30 patients. The structural changes in the CYP1B1 gene previously described in the literature and observed in our study were Q19X, P437L, A443G, g.4340delG, g.7901_79013delGAGTGCAGGCAGA, g.8182delG, and g.8214_8215delG. Three new mutations were observed: 4635delT, 4523delC, and L378Q, in addition to 3793T --> C, R48G, A119S, L432V, D449D, and N453S polymorphisms. Patients carrying CYP1B1 gene mutations needed more surgical procedures to control intraocular pressure, either when both eyes were evaluated (P = 0.003) or when the worst eye of the patient was analyzed (P = 0.011). In relation to the number of affected eyes, all patients with mutations (n = 9/9) developed bilateral glaucoma, whereas 11/21 patients without mutations in the CYP1B1 gene had bilateral glaucoma (P = 0.013). Conclusions: In this group of primary congenital glaucoma patients, a 30% mutation frequency in the CYP1B1 gene was observed. The presence of mutations was associated with a more severe form of the disease, requiring more surgeries for intraocular pressure control and with a higher rate of bilateral cases.
dc.description19
dc.description3
dc.description176
dc.description182
dc.descriptionFAP Santa Casa de Sao Paulo
dc.descriptionFundação de Amparo à Pesquisa do Estado de São Paulo (FAPESP)
dc.descriptionFundação de Amparo à Pesquisa do Estado de São Paulo (FAPESP)
dc.descriptionFAPESP [02/11575-0]
dc.languageen
dc.publisherLippincott Williams & Wilkins
dc.publisherPhiladelphia
dc.publisherEUA
dc.relationJournal Of Glaucoma
dc.relationJ. Glaucoma
dc.rightsfechado
dc.sourceWeb of Science
dc.subjectprimary congenital glaucoma
dc.subjectCYP1B1 gene
dc.subjectmutations
dc.subjectCytochrome P4501b1 Cyp1b1
dc.subjectOpen-angle Glaucoma
dc.subjectIdentification
dc.subjectBuphthalmos
dc.subjectGlc3a
dc.subjectLocus
dc.subject2p21
dc.subjectRegion
dc.titleCYP1B1 Gene Analysis in Primary Congenital Glaucoma Brazilian Patients Novel Mutations and Association With Poor Prognosis
dc.typeArtículos de revistas


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