PMID- 10634594
OWN - NLM
STAT- MEDLINE
DCOM- 20000114
LR  - 20171213
IS  - 0146-0404 (Print)
IS  - 0146-0404 (Linking)
VI  - 41
IP  - 1
DP  - 2000 Jan
TI  - An analysis of ABCR mutations in British patients with recessive retinal
      dystrophies.
PG  - 16-9
AB  - PURPOSE: Several reports have shown that mutations in the ABCR gene can lead to
      Stargardt disease (STGD)/fundus flavimaculatus (FFM), autosomal recessive
      retinitis pigmentosa (arRP), and autosomal recessive cone-rod dystrophy (arCRD). 
      To assess the involvement of ABCR in these retinal dystrophies, the gene was
      screened in a panel of 70 patients of British origin. METHODS: Fifty-six patients
      exhibiting the STGD/FFM phenotype, 6 with arRP, and 8 with arCRD, were screened
      for mutations in the 50 exons of the ABCR gene by heteroduplex analysis and
      direct sequencing. Microsatellite marker haplotyping was used to determine
      ancestry. RESULTS: In the 70 patients analyzed, 31 sequence changes were
      identified, of which 20 were considered to be novel mutations, in a variety of
      phenotypes. An identical haplotype was associated with the same pair of in-cis
      alterations in 5 seemingly unrelated patients and their affected siblings with
      STGD/FFM. Four of the aforementioned patients were found to carry three
      alterations in the coding sequence of the ABCR gene, with two of them being
      in-cis. CONCLUSIONS: These results suggest that ABCR is a relatively polymorphic 
      gene. Because putative mutations have been identified thus far only in 25 of 70
      patients, of whom only 8 are compound heterozygotes, a large number of mutations 
      have yet to be ascertained. The disease haplotype seen in the 5 patients carrying
      the same "complex" allele is consistent with the presence of a common ancestor.
FAU - Papaioannou, M
AU  - Papaioannou M
AD  - Department of Molecular Genetics, Institute of Ophthalmology, London, UK.
FAU - Ocaka, L
AU  - Ocaka L
FAU - Bessant, D
AU  - Bessant D
FAU - Lois, N
AU  - Lois N
FAU - Bird, A
AU  - Bird A
FAU - Payne, A
AU  - Payne A
FAU - Bhattacharya, S
AU  - Bhattacharya S
LA  - eng
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PL  - United States
TA  - Invest Ophthalmol Vis Sci
JT  - Investigative ophthalmology & visual science
JID - 7703701
RN  - 0 (ABCA4 protein, human)
RN  - 0 (ATP-Binding Cassette Transporters)
RN  - 9007-49-2 (DNA)
SB  - IM
MH  - ATP-Binding Cassette Transporters/*genetics
MH  - DNA/analysis
MH  - Electroretinography
MH  - Haplotypes
MH  - Heteroduplex Analysis
MH  - Humans
MH  - *Point Mutation
MH  - Polymerase Chain Reaction
MH  - Retinal Degeneration/*genetics/pathology
MH  - Rod Cell Outer Segment/*pathology
MH  - Sequence Analysis, DNA
MH  - United Kingdom
EDAT- 2000/01/14 00:00
MHDA- 2000/01/14 00:01
CRDT- 2000/01/14 00:00
PHST- 2000/01/14 00:00 [pubmed]
PHST- 2000/01/14 00:01 [medline]
PHST- 2000/01/14 00:00 [entrez]
PST - ppublish
SO  - Invest Ophthalmol Vis Sci. 2000 Jan;41(1):16-9.