Novel non-contiguous exon duplication in choroideremia.
In: Clinical genetics, Jg. 93 (2018), Heft 1, S. 144-148
Online
academicJournal
Zugriff:
The importance of establishing a genetic diagnosis in patients with a choroideremia phenotype has been underscored by the advent of gene replacement therapy for this condition. Here, we describe a complex imbalance at the CHM locus in a male patient with classical disease. At the DNA level, this imbalance consists of 2 non-contiguous duplications (exons 1-2 and 9-12). Further characterization suggests the generation of 2 independent CHM transcriptional units, one of which may produce a deleted form of the Rab escort protein 1 protein. Expression of such a type of aberrant protein in photoreceptors may have important implications when considering gene therapy for this disorder.
(© 2017 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.)
| Titel: |
Novel non-contiguous exon duplication in choroideremia.
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| Autor/in / Beteiligte Person: | Edwards, TL ; Williams, J ; Patrício, MI ; Simunovic, MP ; Shanks, M ; Clouston, P ; MacLaren, RE |
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| Zeitschrift: | Clinical genetics, Jg. 93 (2018), Heft 1, S. 144-148 |
| Veröffentlichung: | Copenhagen, Munksgaard., 2018 |
| Medientyp: | academicJournal |
| ISSN: | 1399-0004 (electronic) |
| DOI: | 10.1111/cge.13021 |
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