Academic Journal
X-linked retinitis pigmentosa caused by non-canonical splice site variants in RPGR .
| العنوان: | X-linked retinitis pigmentosa caused by non-canonical splice site variants in RPGR . |
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| المؤلفون: | Kortüm, F., Kieninger, S., Mazzola, P., Kohl, S., Wissinger, B., Prokisch, H., Stingl, K., Weisschuh, N. |
| المصدر: | Int. J. Mol. Sci. 22:850 (2021) |
| بيانات النشر: | Mdpi |
| سنة النشر: | 2021 |
| المجموعة: | PuSH - Publikationsserver des Helmholtz Zentrums München |
| مصطلحات موضوعية: | Rpgr, X-linked, In Vitro Splice Assay, Non-canonical Splice Site Variant, Retinitis Pigmentosa |
| الوصف: | We aimed to validate the effect of non-canonical splice site variants in the RPGR gene in five patients from four families diagnosed with retinitis pigmentosa. Four variants located in intron 2 (c.154 + 3_154 + 6del), intron 3 (c.247 + 5G>A), intron 7 (c.779-5T>G), and intron 13 (c.1573-12A>G), respectively, were analyzed by means of in vitro splice assays. Splicing analysis revealed different aberrant splicing events, including exon skipping and intronic nucleotide addition, which are predicted to lead either to an in-frame deletion affecting relevant protein domains or to a frameshift of the open reading frame. Our data expand the landscape of pathogenic variants in RPGR, thereby increasing the genetic diagnostic rate in retinitis pigmentosa and allowing patients harboring the analyzed variants to be enrolled in clinical trials. |
| نوع الوثيقة: | article in journal/newspaper |
| وصف الملف: | application/pdf |
| اللغة: | English |
| تدمد: | 1422-0067 1661-6596 |
| Relation: | info:eu-repo/semantics/altIdentifier/pmid/33467000; info:eu-repo/semantics/altIdentifier/wos/WOS:000611889200001; info:eu-repo/semantics/altIdentifier/isbn/1422-0067; info:eu-repo/semantics/altId; https://push-zb.helmholtz-muenchen.de/frontdoor.php?source_opus=61085; urn:isbn:1422-0067; urn:issn:1422-0067; urn:issn:1661-6596 |
| DOI: | 10.3390/ijms22020850 |
| الاتاحة: | https://push-zb.helmholtz-muenchen.de/frontdoor.php?source_opus=61085 https://doi.org/10.3390/ijms22020850 |
| Rights: | info:eu-repo/semantics/openAccess |
| رقم الانضمام: | edsbas.74E2DA71 |
| قاعدة البيانات: | BASE |
Full Text Finder | تدمد: | 14220067 16616596 |
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| DOI: | 10.3390/ijms22020850 |