Mutations in the ABCA4 (ABCR) gene are the major cause of autosomal recessive cone-rod dystrophy

• Verfasst von: Maugeri, Alessandra [VerfasserIn]
• Verfasst von: Klevering, B. Jeroen [VerfasserIn]
• Verfasst von: Rohrschneider, Klaus [VerfasserIn]
• Verfasst von: Blankenagel, Anita [VerfasserIn]
• Verfasst von: Brunner, Han G. [VerfasserIn]
• Verfasst von: Deutman, August F. [VerfasserIn]
• Verfasst von: Hoyng, Carel B. [VerfasserIn]
• Verfasst von: Cremers, Frans P. M. [VerfasserIn]
• Titel: Mutations in the ABCA4 (ABCR) gene are the major cause of autosomal recessive cone-rod dystrophy
• Verf.angabe: Alessandra Maugeri, B. Jeroen Klevering, Klaus Rohrschneider, Anita Blankenagel, Han G. Brunner, August F. Deutman, Carel B. Hoyng, and Frans P.M. Cremers
• E-Jahr: 2000
• Jahr: August 24, 2000
• Umfang: 7 S.
• Teil: volume:67
• Teil: year:2000
• Teil: number:4
• Teil: pages:960-966
• Teil: extent:7
• Fussnoten: Gesehen am 03.03.2021
• Titel Quelle: Enthalten in: The American journal of human genetics
• Ort Quelle: New York, NY [u.a.] : Cell Press, 1949
• Jahr Quelle: 2000
• Band/Heft Quelle: 67(2000), 4, Seite 960-966
• ISSN Quelle: 1537-6605
• Datenträger: Online-Ressource
• Sprache: eng
• K10plus-PPN: 1750182041

Abstract

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.