New Mutation In The Myocilin Gene Segregates With Juvenile-onset Open-angle Glaucoma In A Brazilian Family.

dc.creatorBraghini, Carolina Ayumi
dc.creatorNeshich, Izabella Agostinho Pena
dc.creatorNeshich, Goran
dc.creatorSoardi, Fernanda Caroline
dc.creatorde Mello, Maricilda Palandi
dc.creatorCosta, Vital Paulino
dc.creatorde Vasconcellos, José Paulo Cabral
dc.creatorde Melo, Mônica Barbosa
dc.date2013-Jul
dc.date2015-11-27T13:31:36Z
dc.date2015-11-27T13:31:36Z
dc.date.accessioned2018-03-29T01:17:33Z
dc.date.available2018-03-29T01:17:33Z
dc.identifierGene. v. 523, n. 1, p. 50-7, 2013-Jul.
dc.identifier1879-0038
dc.identifier10.1016/j.gene.2013.02.054
dc.identifierhttp://www.ncbi.nlm.nih.gov/pubmed/23566828
dc.identifierhttp://repositorio.unicamp.br/jspui/handle/REPOSIP/200574
dc.identifier23566828
dc.identifier.urihttp://repositorioslatinoamericanos.uchile.cl/handle/2250/1300807
dc.descriptionMutations in the myocilin gene (MYOC) account for most cases of autosomal dominant juvenile-onset open-angle glaucoma (JOAG), an earlier and more severe form of POAG. We accessed seven members of a Brazilian JOAG family by clinical and molecular investigation. Four out of seven family members were diagnosed with JOAG. All of these patients presented high intraocular pressure and two of them were bilaterally blind. The disease onset varied from 20 to 30years old. There was a nine-year-old family member who had not yet manifested the disease, although he was also a carrier of the mutation. Ophthalmologic examination included: evaluation of the visual field and optic disc, intraocular pressure measurement, and gonioscopy. The three exons and intron/exon junctions of the MYOC gene were screened for mutations through direct sequencing of PCR-amplified DNA fragments. Mutation screening revealed an in-frame mutation in the third exon of the MYOC gene: an insertion of six nucleotides between the cDNA positions 1187 and 1188 (c.1187_1188insCCCAGA, p.D395_E396insDP). This mutation presented an autosomal dominant pattern of inheritance, segregating with the disease in four family members for three generations, and it was absent in 60 normal controls. We also performed a computational structure modeling of olfactomedin-like domain of myocilin protein and conducted in silico analysis to predict the structural changes in the myocilin protein due to the presence of the mutation. These findings may be important for future diagnosis of other presymptomatic family members, as well as for the increase of the panel of MYOC mutations and their effects on phenotype.
dc.description523
dc.description50-7
dc.languageeng
dc.relationGene
dc.relationGene
dc.rightsfechado
dc.rightsCopyright © 2013 Elsevier B.V. All rights reserved.
dc.sourcePubMed
dc.subjectAdult
dc.subjectAge Of Onset
dc.subjectAged
dc.subjectAmino Acid Sequence
dc.subjectBrazil
dc.subjectComputational Biology
dc.subjectCytoskeletal Proteins
dc.subjectDna Mutational Analysis
dc.subjectExons
dc.subjectEye Proteins
dc.subjectFemale
dc.subjectGenetic Predisposition To Disease
dc.subjectGenetic Testing
dc.subjectGlaucoma, Open-angle
dc.subjectGlycoproteins
dc.subjectGonioscopy
dc.subjectHumans
dc.subjectIntraocular Pressure
dc.subjectMale
dc.subjectMiddle Aged
dc.subjectMolecular Sequence Data
dc.subjectMutation
dc.subjectOphthalmology
dc.subjectOptic Disk
dc.subjectPedigree
dc.subjectPhenotype
dc.subjectProtein Structure, Tertiary
dc.subjectVisual Fields
dc.subjectYoung Adult
dc.titleNew Mutation In The Myocilin Gene Segregates With Juvenile-onset Open-angle Glaucoma In A Brazilian Family.
dc.typeArtículos de revistas


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