A single EFEMP1 mutation associated with both Malattia Leventinese and Doyne honeycomb retinal dystrophy

Edwin M Stone; Andrew J Lotery; Francis L Munier; Elise Héon; Bertrand Piguet; Robyn H Guymer; Kimberlie Vandenburgh; Pascal Cousin; Darryl Nishimura; Ruth E Swiderski; Giuliana Silvestri; David A Mackey; Gregory S Hageman; Alan C Bird; Val C Sheffield; Daniel F Schorderet

doi:10.1038/9722

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A single EFEMP1 mutation associated with both Malattia Leventinese and Doyne honeycomb retinal dystrophy

Journal article

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A single EFEMP1 mutation associated with both Malattia Leventinese and Doyne honeycomb retinal dystrophy

Edwin M Stone, Andrew J Lotery, Francis L Munier, Elise Héon, Bertrand Piguet, Robyn H Guymer, Kimberlie Vandenburgh, Pascal Cousin, Darryl Nishimura, Ruth E Swiderski, …

Nature genetics, Vol.22(2), pp.199-202

06/1999

DOI: 10.1038/9722

PMID: 10369267

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Abstract

Malattia Leventinese (ML) and Doyne honeycomb retinal dystrophy (DHRD) refer to two autosomal dominant diseases characterized by yellow-white deposits known as drusen that accumulate beneath the retinal pigment epithelium (RPE). Both loci were mapped to chromosome 2p16-21 (refs 5,6) and this genetic interval has been subsequently narrowed. The importance of these diseases is due in large part to their close phenotypic similarity to age-related macular degeneration (AMD), a disorder with a strong genetic component that accounts for approximately 50% of registered blindness in the Western world. Just as in ML and DHRD, the early hallmark of AMD is the presence of drusen. Here we use a combination of positional and candidate gene methods to identify a single non-conservative mutation (Arg345Trp) in the gene EFEMP1 (for EGF-containing fibrillin-like extracellular matrix protein 1) in all families studied. This change was not present in 477 control individuals or in 494 patients with age-related macular degeneration. Identification of this mutation may aid in the development of an animal model for drusen, as well as in the identification of other genes involved in human macular degeneration.

Aging

Retinal Drusen - genetics

Chromosomes, Artificial, Yeast

Retinal Drusen - physiopathology

Extracellular Matrix Proteins - genetics

Humans

Gene Expression Regulation

Corneal Dystrophies, Hereditary - genetics

Male

Chromosome Mapping

Chromosomes, Human, Pair 2

Point Mutation

Corneal Dystrophies, Hereditary - physiopathology

Animals

Pigment Epithelium of Eye - pathology

Female

Transcription, Genetic

Mice

Amino Acid Substitution

Fluorescein Angiography

Details

Title: Subtitle: A single EFEMP1 mutation associated with both Malattia Leventinese and Doyne honeycomb retinal dystrophy
Creators: Edwin M Stone - The Department of Ophthalmology, The University of Iowa College of Medicine, Iowa City, USA. edwin-stone@uiowa.edu
Andrew J Lotery
Francis L Munier
Elise Héon
Bertrand Piguet
Robyn H Guymer
Kimberlie Vandenburgh
Pascal Cousin
Darryl Nishimura
Ruth E Swiderski
Giuliana Silvestri
David A Mackey
Gregory S Hageman
Alan C Bird
Val C Sheffield
Daniel F Schorderet
Resource Type: Journal article
Publication Details: Nature genetics, Vol.22(2), pp.199-202
DOI: 10.1038/9722
PMID: 10369267
NLM abbreviation: Nat Genet
ISSN: 1061-4036
eISSN: 1546-1718
Publisher: United States
Grant note: EY11515 / NEI NIH HHS EY10539 / NEI NIH HHS
Language: English
Date published: 06/1999
Academic Unit: Stead Family Department of Pediatrics; Iowa Neuroscience Institute; Medical Genetics and Genomics; Ophthalmology and Visual Sciences
Record Identifier: 9983979966702771

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