Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
4
pubmed:dateCreated
2000-10-24
pubmed:abstractText
The photoreceptor cell-specific ATP-binding cassette transporter gene (ABCA4; previously denoted "ABCR") is mutated, in most patients, with autosomal recessive (AR) Stargardt disease (STGD1) or fundus flavimaculatus (FFM). In addition, a few cases with AR retinitis pigmentosa (RP) and AR cone-rod dystrophy (CRD) have been found to have ABCA4 mutations. To evaluate the importance of the ABCA4 gene as a cause of AR CRD, we selected 5 patients with AR CRD and 15 patients from Germany and The Netherlands with isolated CRD. Single-strand conformation-polymorphism analysis and sequencing revealed 19 ABCA4 mutations in 13 (65%) of 20 patients. In six patients, mutations were identified in both ABCA4 alleles; in seven patients, mutations were detected in one allele. One complex ABCA4 allele (L541P;A1038V) was found exclusively in German patients with CRD; one patient carried this complex allele homozygously, and five others were compound heterozygous. These findings suggest that mutations in the ABCA4 gene are the major cause of AR CRD. A primary role of the ABCA4 gene in STGD1/FFM and AR CRD, together with the gene's involvement in an as-yet-unknown proportion of cases with AR RP, strengthens the idea that mutations in the ABCA4 gene could be the most frequent cause of inherited retinal dystrophy in humans.
pubmed:commentsCorrections
http://linkedlifedata.com/resource/pubmed/commentcorrection/10958761-10075733, http://linkedlifedata.com/resource/pubmed/commentcorrection/10958761-10090887, http://linkedlifedata.com/resource/pubmed/commentcorrection/10958761-10206579, http://linkedlifedata.com/resource/pubmed/commentcorrection/10958761-10393062, http://linkedlifedata.com/resource/pubmed/commentcorrection/10958761-10396622, http://linkedlifedata.com/resource/pubmed/commentcorrection/10958761-10412977, http://linkedlifedata.com/resource/pubmed/commentcorrection/10958761-10634594, http://linkedlifedata.com/resource/pubmed/commentcorrection/10958761-10651188, http://linkedlifedata.com/resource/pubmed/commentcorrection/10958761-10711710, http://linkedlifedata.com/resource/pubmed/commentcorrection/10958761-10746567, http://linkedlifedata.com/resource/pubmed/commentcorrection/10958761-10775529, http://linkedlifedata.com/resource/pubmed/commentcorrection/10958761-10874631, http://linkedlifedata.com/resource/pubmed/commentcorrection/10958761-10880298, http://linkedlifedata.com/resource/pubmed/commentcorrection/10958761-10884818, http://linkedlifedata.com/resource/pubmed/commentcorrection/10958761-10888868, http://linkedlifedata.com/resource/pubmed/commentcorrection/10958761-12515255, http://linkedlifedata.com/resource/pubmed/commentcorrection/10958761-2215697, http://linkedlifedata.com/resource/pubmed/commentcorrection/10958761-8398150, http://linkedlifedata.com/resource/pubmed/commentcorrection/10958761-8512479, http://linkedlifedata.com/resource/pubmed/commentcorrection/10958761-9054934, http://linkedlifedata.com/resource/pubmed/commentcorrection/10958761-9295268, http://linkedlifedata.com/resource/pubmed/commentcorrection/10958761-9342372, http://linkedlifedata.com/resource/pubmed/commentcorrection/10958761-9425888, http://linkedlifedata.com/resource/pubmed/commentcorrection/10958761-9466990, http://linkedlifedata.com/resource/pubmed/commentcorrection/10958761-9503029, http://linkedlifedata.com/resource/pubmed/commentcorrection/10958761-9662395, http://linkedlifedata.com/resource/pubmed/commentcorrection/10958761-9781034, http://linkedlifedata.com/resource/pubmed/commentcorrection/10958761-9810566, http://linkedlifedata.com/resource/pubmed/commentcorrection/10958761-9843201, http://linkedlifedata.com/resource/pubmed/commentcorrection/10958761-9973280
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Oct
pubmed:issn
0002-9297
pubmed:author
pubmed:issnType
Print
pubmed:volume
67
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
960-6
pubmed:dateRevised
2009-11-18
pubmed:meshHeading
pubmed:year
2000
pubmed:articleTitle
Mutations in the ABCA4 (ABCR) gene are the major cause of autosomal recessive cone-rod dystrophy.
pubmed:affiliation
Department of Human Genetics, University Medical Centre-Nijmegen, 6500 HB Nijmegen, The Netherlands. A.Maugeri@antrg.azn.nl
pubmed:publicationType
Journal Article, Research Support, Non-U.S. Gov't