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dc.contributor.authorReddy, M.A.-
dc.contributor.authorBhattacharya, Shom Shanker-
dc.contributor.authorMoore, Anthony T.-
dc.date.accessioned2011-09-29T08:42:18Z-
dc.date.available2011-09-29T08:42:18Z-
dc.date.issued2003-02-
dc.identifier.citationBritish Journal of Ophthalmology 87(2): 197-202 (2003)es_ES
dc.identifier.issn0007-1161-
dc.identifier.urihttp://hdl.handle.net/10261/40245-
dc.description6 páginas, 4 figuras, 3 tablas.-- Licence Creative Commons, attribution, Non-commercial licence.-- et al.es_ES
dc.description.abstract[AIM]: To phenotype and genetically map the disease locus in a family presenting with autosomal dominant microcornea, rod-cone dystrophy, cataract, and posterior staphyloma. [METHODS]: Six affected and three unaffected members of the pedigree were examined. All individuals provided a history and underwent a full clinical examination with A-scan and B-scan ultrasonography and electrophysiological testing where appropriate. PCR based microsatellite marker genotyping using a positional candidate gene approach was then performed on DNA samples extracted from venous blood provided by each subject. [RESULTS]: The disorder is inherited as an autosomal dominant trait with variable expressivity and has a complex phenotype. Affected individuals had bilateral microcornea, pulverulent-like lens opacities, a rod-cone dystrophy and posterior staphyloma (MRCS). Using a positional candidate gene approach, the authors have evidence suggestive of linkage of this disorder to a region on 11q13 within the nanophthalmos 1 (NNO1) genetic interval. The small family size militates against achieving a LOD score of 3, but the haplotype data and the position of the putative MRCS locus within a known nanophthalmos locus are suggestive of linkage. A candidate gene within this region (ROM1) was screened and no mutations were found in affected members of the family. [CONCLUSION]: This rare developmental disorder has some phenotypic similarities to nanophthalmos and possibly maps to a locus within the genetic interval encompassing the NNO1 locus. Screening of candidate genes within this region continues.es_ES
dc.language.isoenges_ES
dc.publisherBMJ Publishing Groupes_ES
dc.rightsopenAccesses_ES
dc.titleA clinical and molecular genetic study of a rare dominantly inherited syndrome (MRCS) comprising of microcornea, rod-cone dystrophy, cataract, and posterior staphylomaes_ES
dc.typeartículoes_ES
dc.description.peerreviewedPeer reviewedes_ES
dc.identifier.e-issn1468-2079-
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