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Verfasst von:Cremers, Frans [VerfasserIn]   i
 van de Pol, Dorien J. R. [VerfasserIn]   i
 van Driel, Marc [VerfasserIn]   i
 den Hollander, Anneke I. [VerfasserIn]   i
 van Haren, Frank J. J. [VerfasserIn]   i
 Knoers, Nine V. A. M. [VerfasserIn]   i
 Tijmes, Nel [VerfasserIn]   i
 Bergen, Arthur A. B. [VerfasserIn]   i
 Rohrschneider, Klaus [VerfasserIn]   i
 Blankenagel, Anita [VerfasserIn]   i
 Pinckers, Alfred Joseph Lambert Gérard [VerfasserIn]   i
 Deutman, August F. [VerfasserIn]   i
 Hoyng, Carel B. [VerfasserIn]   i
Titel:Autosomal recessive retinitis pigmentosa and cone-rod dystrophy caused by splice site mutations in the Stargardt's disease gene ABCR
Verf.angabe:Frans P.M. Cremers, Dorien J.R. van de Pol, Marc van Driel, Anneke I. den Hollander, Frank J.J. van Haren, Nine V.A.M. Knoers, Nel Tijmes, Arthur A.B. Bergen, Klaus Rohrschneider, Anita Blankenagel, Alfred J.L.G. Pinckers, August F. Deutman, Carel B. Hoyng
E-Jahr:1998
Jahr:01 March 1998
Umfang:8 S.
Fussnoten:Gesehen am 18.04.2024
Titel Quelle:Enthalten in: Human molecular genetics
Ort Quelle:Oxford : Oxford Univ. Press, 1992
Jahr Quelle:1998
Band/Heft Quelle:7(1998), 3, Seite 355-362
ISSN Quelle:1460-2083
Abstract:Ophthalmological and molecular genetic studies were performed in a consanguineous family with individuals showing either retinitis pigmentosa (RP) or cone-rod dystrophy (CRD). Assuming pseudodominant (recessive) inheritance of allelic defects, linkage analysis positioned the causal gene at 1p21-p13 (lod score 4.22), a genomic segment known to harbor the ABCR gene involved in Stargardt's disease (STGD) and age-related macular degeneration (AMD). We completed the exon-intron structure of the ABCR gene and detected a severe homozygous 5′ splice site mutation, IVS30+1G→T, in the four RP patients. The five CRD patients in this family are compound heterozygotes for the IVS30+1G→T mutation and a 5′ splice site mutation in intron 40 (IVS40+5G→A). Both splice site mutations were found heterozygously in two unrelated STGD patients, but not in 100 control individuals. In these patients the second mutation was either a missense mutation or unknown. Since thus far no STGD patients have been reported to carry two ABCR null alleles and taking into account that the RP phenotype is more severe than the STGD phenotype, we hypothesize that the intron 30 splice site mutation represents a true null allele. Since the intron 30 mutation is found heterozygously in the CRD patients, the IVS40+5G→A mutation probably renders the exon 40 5′ splice site partially functional. These results show that mutations in the ABCR gene not only result in STGD and AMD, but can also cause autosomal recessive RP and CRD. Since the heterozygote frequency for ABCR mutations is estimated at 0.02, mutations in ABCR might be an important cause of autosomal recessive and sporadic forms of RP and CRD.
DOI:doi:10.1093/hmg/7.3.355
URL:Bitte beachten Sie: Dies ist ein Bibliographieeintrag. Ein Volltextzugriff für Mitglieder der Universität besteht hier nur, falls für die entsprechende Zeitschrift/den entsprechenden Sammelband ein Abonnement besteht oder es sich um einen OpenAccess-Titel handelt.

Volltext: https://doi.org/10.1093/hmg/7.3.355
 DOI: https://doi.org/10.1093/hmg/7.3.355
Datenträger:Online-Ressource
Sprache:eng
K10plus-PPN:188621834X
Verknüpfungen:→ Zeitschrift

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