Identification of a novel oligomerization disrupting mutation in CRYAA associated with congenital cataract in a South Australian family

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dc.contributor.author Laurie, Kate
dc.contributor.author Dave, Alpana
dc.contributor.author Straga, Tania
dc.contributor.author Souzeau, Emmanuelle
dc.contributor.author Chataway, Timothy Kennion
dc.contributor.author Sykes, Matthew James
dc.contributor.author Casey, Theresa
dc.contributor.author Teo, Theodosia
dc.contributor.author Pater, John Brian
dc.contributor.author Craig, Jamie E
dc.contributor.author Sharma, Shiwani
dc.contributor.author Burdon, Kathryn Penelope
dc.date.accessioned 2013-06-04T03:11:28Z
dc.date.available 2013-06-04T03:11:28Z
dc.date.issued 2013-03
dc.description This article appeared in Human Mutation, published by Wiley-Blackwell. Under Wiley-Blackwell's copyright, mandated authors are not permitted to make work available in an institutional repository. en
dc.description.abstract 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. en
dc.description.sponsorship Contract grant sponsors: National Health and Medical Research Council (NHMRC) of Australia (426753); Channel 7 Children's Research Foundation, South Australia. en
dc.identifier.citation Laurie, K.J., Dave, A., Straga, T., Souzeau, E., Chataway, T., Sykes, M.J., Casey, T., Teo, T., Pater, J., Craig, J.E., Sharma, S. and Burdon, K.P., 2013. Identification of a novel oligomerization disrupting mutation in CRYΑA associated with congenital cataract in a South Australian family. Human Mutation, 34: 435–438. en
dc.identifier.doi https://doi.org/10.1002/humu.22260 en
dc.identifier.issn 1059-7794
dc.identifier.uri http://hdl.handle.net/2328/26797
dc.language.iso en
dc.publisher Wiley-Blackwell en
dc.relation http://purl.org/au-research/grants/nhmrc/426753 en
dc.relation.grantnumber NHMRC/426753 en
dc.subject Opthalmology en
dc.subject Genetics en
dc.subject Congenital cataracts en
dc.subject Vision loss en
dc.title Identification of a novel oligomerization disrupting mutation in CRYAA associated with congenital cataract in a South Australian family en
dc.type Article en
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