Congenital cataract is a heterogeneous disorder causing severe visual impairment in affected children. We screened four South Australian families with autosomal dominant congenital cataract for mutations in 10 crystallin genes known to cause congenital cataract. We identified a novel segregating heterozygous mutation, c.62G>A (p.R21Q), in the CRYΑA gene in one family. Western blotting of proteins freshly extracted from cataractous lens material of the proband demonstrated a marked reduction in the amount of the high-molecular-weight oligomers seen in the lens material of an unaffected individual. We conclude that the p.R21Q mutation, which is located in the highly conserved and structurally significant N-terminal region of the protein, is responsible for the cataract phenotype observed in the family as this mutation likely reduces the formation of the functional oligomeric alpha-crystallin.

Item Type:	Refereed Article
Keywords:	Cataract; Crystallin; Genetics; Ocular lens; Oligomerization; Protein analysis
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:	90108
Year Published:	2013
Web of Science® Times Cited:	22
Deposited By:	Menzies Institute for Medical Research
Deposited On:	2014-03-27
Last Modified:	2017-11-06
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