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Investigation of crystallin genes in familial cataract, and report of two disease associated mutations


Burdon, KP and Wirth, MG and Mackey, DA and Russell-Eggitt, IM and Craig, JE and Elder, JE and Dickinson, JL and Sale, MM, Investigation of crystallin genes in familial cataract, and report of two disease associated mutations, British Journal of Ophthalmology , 88, (1) pp. 79-83. ISSN 0007-1161 (2004) [Refereed Article]

DOI: doi:10.1136/bjo.88.1.79


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 γ-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.

Item Details

Item Type:Refereed Article
Research Division:Biomedical and Clinical Sciences
Research Group:Ophthalmology and optometry
Research Field:Ophthalmology
Objective Division:Health
Objective Group:Clinical health
Objective Field:Clinical health not elsewhere classified
UTAS Author:Burdon, KP (Professor Kathryn Burdon)
UTAS Author:Mackey, DA (Professor David Mackey)
UTAS Author:Craig, JE (Mr Jamie Craig)
UTAS Author:Dickinson, JL (Professor Joanne Dickinson)
UTAS Author:Sale, MM (Dr Michele Sale)
ID Code:30838
Year Published:2004
Web of Science® Times Cited:57
Deposited By:Medicine
Deposited On:2004-08-01
Last Modified:2010-06-03

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