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Recurrent mutation in the crystallin alpha A gene associated with inherited paediatric cataract


Javadiyan, S and Craig, JE and Souzeau, E and Sharma, S and Lower, KM and Pater, J and Casey, T and Hodson, T and Burdon, KP, Recurrent mutation in the crystallin alpha A gene associated with inherited paediatric cataract, BMC Research Notes, 9, (1) Article 83. ISSN 1756-0500 (2016) [Refereed Article]


Copyright Statement

2016 Javadiyan et al. Licensed under Creative Commons Attribution 4.0 International (CC BY 4)

DOI: doi:10.1186/s13104-016-1890-0


BACKGROUND: Cataract is a major cause of childhood blindness worldwide. The purpose of this study was to determine the genetic cause of paediatric cataract in a South Australian family with a bilateral lamellar paediatric cataract displaying variable phenotypes.

CASE PRESENTATION: Fifty-one genes implicated in congenital cataract in human or mouse were sequenced in an affected individual from an Australian (Caucasian) family using a custom Ampliseq library on the Ion Torrent Personal Genome Machine. Reads were mapped against the human genome (hg19) and variants called with the Torrent Suite software. Variants were annotated to dbSNP 137 using Ion Reporter (IR 1.6.2) and were prioritised for validation if they were novel or rare and were predicted to be protein changing. We identified a previously reported oligomerization disrupting mutation, c.62G > A (p.R21Q), in the Crystallin alpha A (CRYAA) gene segregating in this three generation family. No other novel or rare coding mutations were detected in the known cataract genes sequenced. Microsatellite markers were used to compare the haplotypes between the family reported here and a previously published family with the same segregating mutation. Haplotype analysis indicated a potential common ancestry between the two South Australian families with this mutation. The work strengthens the genotype-phenotype correlations between this functional mutation in the crystallin alpha A (CRYAA) gene and paediatric cataract.

CONCLUSION: The p.R21Q mutation is the most likely cause of paediatric cataract in this family. The recurrence of this mutation in paediatric cataract families is likely due to a familial relationship.

Item Details

Item Type:Refereed Article
Keywords:CRYAA, Congenital cataract, Paediatric cataract, Ion Ampliseq technologies, Next generation sequencing, PGM
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)
ID Code:108238
Year Published:2016
Deposited By:Menzies Institute for Medical Research
Deposited On:2016-04-14
Last Modified:2017-11-07
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