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

Citation

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

Abstract

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:Medical and Health Sciences
Research Group:Ophthalmology and Optometry
Research Field:Ophthalmology
Objective Division:Health
Objective Group:Clinical Health (Organs, Diseases and Abnormal Conditions)
Objective Field:Hearing, Vision, Speech and Their Disorders
Author:Burdon, KP (Associate Professor Kathryn Burdon)
Author:Mackey, DA (Professor David Mackey)
Author:Craig, JE (Mr Jamie Craig)
Author:Dickinson, JL (Associate Professor Joanne Dickinson)
Author:Sale, MM (Dr Michele Sale)
ID Code:30838
Year Published:2004
Web of Science® Times Cited:51
Deposited By:Medicine (Discipline)
Deposited On:2004-08-01
Last Modified:2010-06-03
Downloads:0

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