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Investigation of eight candidate genes on chromosome 1p36 for autosomal dominant total congenital cataract
Citation
Burdon, KP and Hattersley, K and Lachke, SA and Laurie, KJ and Maas, RL and Mackey, DA and Craig, JE, Investigation of eight candidate genes on chromosome 1p36 for autosomal dominant total congenital cataract, Molecular Vision, 14 pp. 1799-1804. ISSN 1090-0535 (2008) [Refereed Article]
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Copyright Statement
Copyright 2008 Molecular Vision
Official URL: http://www.molvis.org/molvis/v14/a212
Abstract
Purpose: To identify the causative gene for autosomal dominant total congenital cataract in a six-generation Australian family displaying linkage to chromosome 1p36. Methods: Eight candidate genes (HSPB7, FBXO42, EFHD2, ZBTB17, CAPZB, FBLIM1, ALDH4A1, and MFAP2) from within the previously defined linkage interval were selected based on expression in lens and their known or putative function. The coding exons were sequenced in multiple affected family members and compared to the reference sequence. Results: No segregating mutations were identified in any of the eight genes. Thirty-one polymorphisms were detected, 20 of which were in the exons and 11 in the flanking introns. Conclusions: Coding mutations in HSPB7, FBXO42, EFHD2, ZBTB17, CAPZB, FBLIM1, ALDH4A1, and MFAP2 do not account for congenital cataract in this family.
Item Details
Item Type: | Refereed Article |
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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: | 91066 |
Year Published: | 2008 |
Web of Science® Times Cited: | 4 |
Deposited By: | Menzies Institute for Medical Research |
Deposited On: | 2014-05-06 |
Last Modified: | 2014-06-10 |
Downloads: | 393 View Download Statistics |
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