Investigation of eight candidate genes on chromosome 1p36 for autosomal dominant total congenital cataract
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Investigation of eight candidate genes on chromosome 1p36 for autosomal dominant total congenital cataract
| Title: | Investigation of eight candidate genes on chromosome 1p36 for autosomal dominant total congenital cataract |
| Author: |
Burdon, Kathryn P.; Hattersley, Kathryn; Laurie, Kate J.; Mackey, David A.; Craig, Jamie E.; Lachke, Salil Anil; Maas, Richard Louis
Note: Order does not necessarily reflect citation order of authors. |
| Citation: | Burdon, Kathryn P., Kathryn Hattersley, Salil A. Lachke, Kate J. Laurie, Richard L. Maas, David A. Mackey, and Jamie E. Craig. 2008. Investigation of eight candidate genes on chromosome 1p36 for autosomal dominant total congenital cataract. Molecular Vision 14: 1799-1804. |
| Full Text & Related Files: |
2563027.pdf (2.215Mb; PDF) 
|
| 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. |
| Other Sources: |
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2563027/pdf/
http://www.molvis.org/molvis/v14/a212/ |
| Terms of Use: | This article is made available under the terms and conditions applicable to Other Posted Material, as set forth at http://nrs.harvard.edu/urn-3:HUL.InstRepos:dash.current.terms-of-use#LAA |
| Citable link to this page: | http://nrs.harvard.edu/urn-3:HUL.InstRepos:4879189 |
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