Loading...
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.
Citations
Altmetric:
Affiliation
Institute of Ophthalmology; Moorfields Eye Hospital; Addenbrooke’s Hospital; University of Birmingham; George Eliot Hospital
Other Contributors
Publication date
2003-02-01
Subject
Collections
Files
Loading...
197.full.pdf
Adobe PDF, 339.65 KB
Research Projects
Organizational Units
Journal Issue
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.
Citation
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.
Type
Article
Description
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/