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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
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
Author:Burdon, KP (Associate Professor Kathryn Burdon)
ID Code:91066
Year Published:2008
Deposited By:Menzies Institute for Medical Research
Deposited On:2014-05-06
Last Modified:2014-06-10
Downloads:314 View Download Statistics

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