| Lumpers or splitters? The role of molecular diagnosis in Leber congenital amaurosis. | |
MedLine Citation:
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PMID: 17148037 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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Clarification and classification of the congenital form of blindness known as Leber congenital amaurosis (LCA) continues to provide its challenges and dilemmas. Until recently, seven genes have been identified that cause LCA. Clarifying the relation between LCA and associated neurological abnormalities such as autism, seizures, and hypotony, and unraveling the relationship between the ocular LCA phenotype and that associated with distinct systemic entities such as Joubert syndrome, Senior-Loken syndrome and Saldino-Mainzer syndrome has taken on new importance with the discovery that a substantial proportion of patients with LCA have mutations in the CEP290 gene that causes Joubert syndrome. This commentary explores the implications of this recent discovery and revisits the classification of LCA. |
Authors:
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Elias I Traboulsi; Robert Koenekoop; Edwin M Stone |
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Publication Detail:
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Type: Editorial |
Journal Detail:
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Title: Ophthalmic genetics Volume: 27 ISSN: 1381-6810 ISO Abbreviation: Ophthalmic Genet. Publication Date: 2006 Dec |
Date Detail:
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Created Date: 2006-12-06 Completed Date: 2007-01-23 Revised Date: 2009-11-19 |
Medline Journal Info:
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Nlm Unique ID: 9436057 Medline TA: Ophthalmic Genet Country: England |
Other Details:
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Languages: eng Pagination: 113-5 Citation Subset: IM |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Antigens, Neoplasm
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genetics Blindness / classification, congenital*, diagnosis*, genetics DNA Mutational Analysis Genetic Testing Humans Molecular Diagnostic Techniques* Mutation Neoplasm Proteins / genetics Nystagmus, Pathologic / congenital, genetics Retinal Degeneration / congenital, genetics Syndrome |
| Chemical | |
Reg. No./Substance:
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0/Antigens, Neoplasm; 0/Cep290 protein, human; 0/Neoplasm Proteins |
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