| Online-Ressource |
Verfasst von: | Weik, Anja Kathrin [VerfasserIn]  |
| Rohrschneider, Klaus [VerfasserIn]  |
| Strom, Tim M. [VerfasserIn]  |
| Glöckle, Nicola [VerfasserIn]  |
| Kohl, Susanne [VerfasserIn]  |
| Wissinger, Bernd [VerfasserIn]  |
| Weisschuh, Nicole [VerfasserIn]  |
Titel: | Homozygosity mapping and whole-genome sequencing reveals a deep intronic PROM1 mutation causing cone-rod dystrophy by pseudoexon activation |
Verf.angabe: | Anja K. Mayer, Klaus Rohrschneider, Tim M. Strom, Nicola Glöckle, Susanne Kohl, Bernd Wissinger and Nicole Weisschuh |
Jahr: | 2016 |
Jahr des Originals: | 2015 |
Umfang: | 4 S. |
Fussnoten: | Published: 08 July 2015 ; Gesehen am 13.05.2020 |
Titel Quelle: | Enthalten in: European journal of human genetics |
Ort Quelle: | Basingstoke : Stockton Press, 1998 |
Jahr Quelle: | 2016 |
Band/Heft Quelle: | 24(2016), 3, Seite 459-462 |
ISSN Quelle: | 1476-5438 |
Abstract: | Several genes have been implicated in the autosomal recessive form of cone-rod dystrophy (CRD), but the majority of cases remain unsolved. We identified a homozygous interval comprising two known genes associated with the autosomal recessive form of CRD, namely RAB28 and PROM1, in a consanguineous family with clinical evidence of CRD. Both genes proved to be mutation negative upon sequencing of exons and canonical splice sites but whole-genome sequencing revealed a private variant located deep in intron 18 of PROM1. In silico and functional analyses of this variant using minigenes as splicing reporters revealed the integration of a pseudoexon in the mutant transcript, thereby leading to a premature termination codon and presumably resulting in a functional null allele. This is the first report of a deep intronic variant that acts as a splicing mutation in PROM1. The detection of such variants escapes the exon-focused techniques typically used in genetic analyses. Sequencing the entire genomic regions of known disease genes might identify more causal mutations in the autosomal recessive form of CRD. |
DOI: | doi:10.1038/ejhg.2015.144 |
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 ; Verlag: https://doi.org/10.1038/ejhg.2015.144 |
| Volltext: https://www.nature.com/articles/ejhg2015144 |
| DOI: https://doi.org/10.1038/ejhg.2015.144 |
Datenträger: | Online-Ressource |
Sprache: | eng |
K10plus-PPN: | 1698135777 |
Verknüpfungen: | → Zeitschrift |
Homozygosity mapping and whole-genome sequencing reveals a deep intronic PROM1 mutation causing cone-rod dystrophy by pseudoexon activation / Weik, Anja Kathrin [VerfasserIn]; 2016 (Online-Ressource)