Mutations in the ABCA4 (ABCR) gene are the major cause of autosomal recessive cone-rod dystrophy
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 dyst...
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| Main Authors: | , , , , , , , |
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| Format: | Article (Journal) |
| Language: | English |
| Published: |
August 24, 2000
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| In: |
The American journal of human genetics
Year: 2000, Volume: 67, Issue: 4, Pages: 960-966 |
| ISSN: | 1537-6605 |
| Online Access: | Aggregator, lizenzpflichtig, Volltext: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1287897/
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| Author Notes: | Alessandra Maugeri, B. Jeroen Klevering, Klaus Rohrschneider, Anita Blankenagel, Han G. Brunner, August F. Deutman, Carel B. Hoyng, and Frans P.M. Cremers |
| Summary: | 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 with isolated CRD, all from Germany and The Netherlands . 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. |
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| Item Description: | Gesehen am 03.03.2021 |
| Physical Description: | Online Resource |
| ISSN: | 1537-6605 |