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Please use this identifier to cite or link to this item: http://hdl.handle.net/2328/1590

Title: Investigation of crystallin genes in familial cataract, and report of two disease associated mutations.
Authors: Burdon, Kathryn Penelope
Wirth, M Gabriela
Mackey, David A
Russell-Eggit, Isabelle M
Craig, Jamie E
Elder, James E
Dickinson, Joanne L
Sale, Michele M
Keywords: Cataract
Eye Diseases, Hereditary
Genetic Predisposition to Disease
Polymorphism, Single-Stranded Conformational
Issue Date: Jan-2004
Publisher: BMJ Publishing Group - http://bjo.bmjjournals.com/
Citation: Burdon, K.P. Wirth, M.G. Mackey, D.A. Russell-Eggitt, I.M. Craig, J.E. Elder, J.E. Dickinson, J.L. Sale, M.M. 2004 Investigation of crystallin genes in familial cataract, and report of two disease associated mutations. 'British Journal of Ophthalmology' Vol. 88, No. 1, 79-83
Abstract: AIMS: Mutations of seven crystallin genes have been shown to cause familial cataract. The authors aimed to identify disease causing crystallin mutations in paediatric cataract families from south eastern Australia. METHODS: 38 families with autosomal dominant or recessive paediatric cataract were examined. Three large families were studied by linkage analysis. Candidate genes at regions providing significant LOD scores were sequenced. Single stranded conformational polymorphism (SSCP) analysis was used to screen five crystallin genes in the probands, followed by direct sequencing of observed electrophoretic shifts. Mutations predicted to affect the coding sequence were subsequently investigated in the entire pedigree. RESULTS: A LOD score of 3.72 was obtained at the gamma-crystallin locus in one pedigree. Sequencing revealed a P23T mutation of CRYGD, found to segregate with disease. A splice site mutation at the first base of intron 3 of the CRYBA1/A3 gene segregating with disease was identified by SSCP in another large family. Five polymorphisms were also detected. CONCLUSIONS: Although mutations in the five crystallin genes comprehensively screened in this study account for 38% of paediatric cataract mutations in the literature, only two causative mutations were detected in 38 pedigrees, suggesting that crystallin mutations are a relatively rare cause of the cataract phenotype in this population.
URI: http://hdl.handle.net/2328/1590
ISSN: 0007-1161
Appears in Collections:Ophthalmology, Eye and Vision Research Collected Works

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