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Open Access item A clinical and molecular genetic study of a rare dominantly inherited syndrome (MRCS) comprising of microcornea, rod-cone dystrophy, cataract, and posterior staphyloma
|Authors:||Reddy, M. A.|
Bhattacharya, Shom Shanker
Moore, A. T.
|Publisher:||BMJ Publishing Group|
|Citation:||British Journal of Ophthalmology 87(2): 197-202 (2003)|
|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.|
|Description:||6 páginas, 4 figuras, 3 tablas.-- Licence Creative Commons, attribution, Non-commercial licence.-- et al.|
|E-ISSNmetadata.dc.identifier.doi = DOI:||1468-2079|
|Appears in Collections:||(CABIMER) Artículos|
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