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A clinical and molecular genetic study of a rare dominantly inherited syndrome (MRCS) comprising of microcornea, rod-cone dystrophy, cataract, and posterior staphyloma
Reddy, M. A. Francis, P. J. Berry, V Bradshaw, K Patel, R. J. Maher, E. R. Kumar, R Bhattacharya, S. S. Moore, A. T.
Reddy, M. A.
Francis, P. J.
Berry, V
Bradshaw, K
Patel, R. J.
Maher, E. R.
Kumar, R
Bhattacharya, S. S.
Moore, A. T.
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.
MIDER Authors
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Institute of Ophthalmology; Moorfields Eye Hospital; Addenbrooke’s Hospital; University of Birmingham; George Eliot Hospital
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2003-02-01
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Reddy MA, Francis PJ, Berry V, Bradshaw K, Patel RJ, Maher ER, Kumar R, Bhattacharya SS, Moore AT. A clinical and molecular genetic study of a rare dominantly inherited syndrome (MRCS) comprising of microcornea, rod-cone dystrophy, cataract, and posterior staphyloma. Br J Ophthalmol. 2003 Feb;87(2):197-202. doi: 10.1136/bjo.87.2.197.
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Reuse is allowed pursuant to the terms of the Creative Commons Attribution-NonCommercial
4.0 International (CC BY-NC 4.0) licence. https://creativecommons.org/licenses/by-nc/4.0/