| Adult vitelliform macular dystrophy is frequently associated with mutations in the peripherin/RDS gene. | |
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MedLine Citation:
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PMID: 9338584 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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Mutations in the peripherin/RDS gene, which encodes a photoreceptor-specific membrane glycoprotein, have been identified in a variety of retinal phenotypes. However, the mechanisms by which specific mutations in this gene can cause typical features of retinal dystrophies clinically as distinct as retinitis pigmentosa or macular degeneration are still unknown. Recently, a single case of adult vitelliform macular dystrophy (AVMD) has been associated with a Y258Stop mutation. To assess the frequency of peripherin/RDS mutations in the clinically heterogeneous group of AVMD, we analyzed the entire coding region of the gene in 28 unrelated patients. We identified five novel mutations including two presumed null allele mutations. Thus, our results demonstrate that a significant portion of AVMD patients (18%) carry point mutations in peripherin/RDS, suggesting that this gene is frequently involved in the pathogenesis of this macular disorder. In addition, this study shows that the variable phenotypes in AVMD are due, at least in part, to genetic heterogeneity and are likely to be caused by mutations in disease genes thus far unknown. |
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Authors:
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U Felbor; H Schilling; B H Weber |
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Publication Detail:
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Type: Journal Article; Research Support, Non-U.S. Gov't |
Journal Detail:
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Title: Human mutation Volume: 10 ISSN: 1059-7794 ISO Abbreviation: Hum. Mutat. Publication Date: 1997 |
Date Detail:
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Created Date: 1997-11-24 Completed Date: 1997-11-24 Revised Date: 2006-11-15 |
Medline Journal Info:
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Nlm Unique ID: 9215429 Medline TA: Hum Mutat Country: UNITED STATES |
Other Details:
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Languages: eng Pagination: 301-9 Citation Subset: IM |
Affiliation:
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Institut für Humangenetik, Universität Würzburg, Germany. |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Aged Female Glycine / genetics Humans Intermediate Filament Proteins / genetics* Macular Degeneration / genetics* Male Membrane Glycoproteins* Methionine / genetics Middle Aged Mutation* Nerve Tissue Proteins / genetics* Polymerase Chain Reaction Polymorphism, Genetic Polymorphism, Single-Stranded Conformational Serine / genetics Threonine / genetics Tryptophan / genetics Valine / genetics |
| Chemical | |
Reg. No./Substance:
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0/Intermediate Filament Proteins; 0/Membrane Glycoproteins; 0/Nerve Tissue Proteins; 0/peripherin; 56-40-6/Glycine; 56-45-1/Serine; 63-68-3/Methionine; 7004-03-7/Valine; 72-19-5/Threonine; 73-22-3/Tryptophan |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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