PMID- 10369267
OWN - NLM
STAT- MEDLINE
DCOM- 19990629
LR  - 20071114
IS  - 1061-4036 (Print)
IS  - 1061-4036 (Linking)
VI  - 22
IP  - 2
DP  - 1999 Jun
TI  - A single EFEMP1 mutation associated with both Malattia Leventinese and Doyne
      honeycomb retinal dystrophy.
PG  - 199-202
AB  - 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.
FAU - Stone, E M
AU  - Stone EM
AD  - The Department of Ophthalmology, The University of Iowa College of Medicine, Iowa
      City, USA. edwin-stone@uiowa.edu
FAU - Lotery, A J
AU  - Lotery AJ
FAU - Munier, F L
AU  - Munier FL
FAU - Heon, E
AU  - Heon E
FAU - Piguet, B
AU  - Piguet B
FAU - Guymer, R H
AU  - Guymer RH
FAU - Vandenburgh, K
AU  - Vandenburgh K
FAU - Cousin, P
AU  - Cousin P
FAU - Nishimura, D
AU  - Nishimura D
FAU - Swiderski, R E
AU  - Swiderski RE
FAU - Silvestri, G
AU  - Silvestri G
FAU - Mackey, D A
AU  - Mackey DA
FAU - Hageman, G S
AU  - Hageman GS
FAU - Bird, A C
AU  - Bird AC
FAU - Sheffield, V C
AU  - Sheffield VC
FAU - Schorderet, D F
AU  - Schorderet DF
LA  - eng
GR  - EY10539/EY/NEI NIH HHS/United States
GR  - EY11515/EY/NEI NIH HHS/United States
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PT  - Research Support, U.S. Gov't, P.H.S.
PL  - United States
TA  - Nat Genet
JT  - Nature genetics
JID - 9216904
RN  - 0 (EFEMP1 protein, human)
RN  - 0 (Efemp1 protein, mouse)
RN  - 0 (Extracellular Matrix Proteins)
SB  - IM
MH  - Aging
MH  - Amino Acid Substitution
MH  - Animals
MH  - Chromosome Mapping
MH  - Chromosomes, Artificial, Yeast
MH  - *Chromosomes, Human, Pair 2
MH  - Corneal Dystrophies, Hereditary/*genetics/physiopathology
MH  - Extracellular Matrix Proteins/*genetics
MH  - Female
MH  - Fluorescein Angiography
MH  - Gene Expression Regulation
MH  - Humans
MH  - Male
MH  - Mice
MH  - Pigment Epithelium of Eye/pathology
MH  - *Point Mutation
MH  - Retinal Drusen/*genetics/physiopathology
MH  - Transcription, Genetic
EDAT- 1999/06/16 10:00
MHDA- 2001/03/23 10:01
CRDT- 1999/06/16 10:00
PHST- 1999/06/16 10:00 [pubmed]
PHST- 2001/03/23 10:01 [medline]
PHST- 1999/06/16 10:00 [entrez]
AID - 10.1038/9722 [doi]
PST - ppublish
SO  - Nat Genet. 1999 Jun;22(2):199-202. doi: 10.1038/9722.