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]
© 2016 Javadiyan et al. Licensed under Creative Commons Attribution 4.0 International (CC BY 4) http://creativecommons.org/licenses/by/4.0/
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 Type:||Refereed Article|
|Keywords:||CRYAA, Congenital cataract, Paediatric cataract, Ion Ampliseq technologies, Next generation sequencing, PGM|
|Research Division:||Medical and Health Sciences|
|Research Group:||Ophthalmology and Optometry|
|Objective Group:||Clinical Health (Organs, Diseases and Abnormal Conditions)|
|Objective Field:||Hearing, Vision, Speech and Their Disorders|
|Author:||Burdon, KP (Associate Professor Kathryn Burdon)|
|Deposited By:||Menzies Institute for Medical Research|
|Downloads:||61 View Download Statistics|
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