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Identification of a novel oligomerization disrupting mutation in CRYΑA associated with congenital cataract in a South Australian family
Citation
Laurie, KJ and Dave, A and Straga, T and Souzeau, E and Chataway, T and Sykes, MJ and Casey, T and Teo, T and Pater, J and Craig, JE and Sharma, S and Burdon, KP, Identification of a novel oligomerization disrupting mutation in CRYΑA associated with congenital cataract in a South Australian family, Human Mutation, 34, (3) pp. 435-438. ISSN 1059-7794 (2013) [Refereed Article]
Copyright Statement
Copyright 2013 Wiley Blackwell
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.
Item Details
| Item Type: | Refereed Article |
|---|---|
| Keywords: | Cataract; Crystallin; Genetics; Ocular lens; Oligomerization; Protein analysis |
| 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 |
| UTAS Author: | Burdon, KP (Professor Kathryn Burdon) |
| ID Code: | 90108 |
| Year Published: | 2013 |
| Web of Science® Times Cited: | 16 |
| Deposited By: | Menzies Institute for Medical Research |
| Deposited On: | 2014-03-27 |
| Last Modified: | 2017-11-06 |
| Downloads: | 0 |
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