PMID- 10205271
OWN - NLM
STAT- MEDLINE
DCOM- 19990520
LR  - 20181113
IS  - 0002-9297 (Print)
IS  - 0002-9297 (Linking)
VI  - 64
IP  - 5
DP  - 1999 May
TI  - A new locus for autosomal dominant stargardt-like disease maps to chromosome 4.
PG  - 1394-9
AB  - Stargardt disease (STGD) is the most common hereditary macular dystrophy and is
      characterized by decreased central vision, atrophy of the macula and underlying
      retinal-pigment epithelium, and frequent presence of prominent flecks in the
      posterior pole of the retina. STGD is most commonly inherited as an autosomal
      recessive trait, but many families have been described in which features of the
      disease are transmitted in an autosomal dominant manner. A recessive locus has
      been identified on chromosome 1p (STGD1), and dominant loci have been mapped to
      both chromosome 13q (STGD2) and chromosome 6q (STGD3). In this study, we describe
      a kindred with an autosomal dominant Stargardt-like phenotype. A genomewide
      search demonstrated linkage to a locus on chromosome 4p, with a maximum LOD score
      of 5.12 at a recombination fraction of.00, for marker D4S403. Analysis of
      extended haplotypes localized the disease gene to an approximately 12-cM interval
      between loci D4S1582 and D4S2397. Therefore, this kindred establishes a new
      dominant Stargardt-like locus, STGD4.
FAU - Kniazeva, M
AU  - Kniazeva M
AD  - Department of Molecular, Cellular, and Developmental Biology, Howard Hughes
      Medical Institute, University of Colorado, Boulder, CO 80309, USA.
      marinak@colorado.edu
FAU - Chiang, M F
AU  - Chiang MF
FAU - Morgan, B
AU  - Morgan B
FAU - Anduze, A L
AU  - Anduze AL
FAU - Zack, D J
AU  - Zack DJ
FAU - Han, M
AU  - Han M
FAU - Zhang, K
AU  - Zhang K
LA  - eng
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  - Am J Hum Genet
JT  - American journal of human genetics
JID - 0370475
RN  - 0 (Genetic Markers)
SB  - IM
MH  - *Chromosome Mapping
MH  - Chromosomes, Human, Pair 4/*genetics
MH  - Female
MH  - Genetic Markers
MH  - Haplotypes
MH  - Humans
MH  - Lod Score
MH  - Macular Degeneration/*genetics
MH  - Male
MH  - Pedigree
MH  - Phenotype
PMC - PMC1377876
EDAT- 1999/04/17 02:14
MHDA- 2000/03/21 09:00
CRDT- 1999/04/17 02:14
PHST- 1999/04/17 02:14 [pubmed]
PHST- 2000/03/21 09:00 [medline]
PHST- 1999/04/17 02:14 [entrez]
AID - S0002-9297(07)62285-X [pii]
AID - 10.1086/302377 [doi]
PST - ppublish
SO  - Am J Hum Genet. 1999 May;64(5):1394-9. doi: 10.1086/302377.