Novel non-contiguous exon duplication in choroideremia
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 imb...
| Autors principals: | , , , , , , |
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| Format: | Journal article |
| Idioma: | English |
| Publicat: |
Wiley
2017
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| _version_ | 1826305226132422656 |
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| author | Edwards, T Williams, J Patrício, M Simunovic, M Shanks, M Clouston, P MacLaren, R |
| author_facet | Edwards, T Williams, J Patrício, M Simunovic, M Shanks, M Clouston, P MacLaren, R |
| author_sort | Edwards, T |
| collection | OXFORD |
| description | 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. |
| first_indexed | 2024-03-07T06:29:40Z |
| format | Journal article |
| id | oxford-uuid:f58e37db-ff8b-4553-86b9-459fdec874ab |
| institution | University of Oxford |
| language | English |
| last_indexed | 2024-03-07T06:29:40Z |
| publishDate | 2017 |
| publisher | Wiley |
| record_format | dspace |
| spelling | oxford-uuid:f58e37db-ff8b-4553-86b9-459fdec874ab2022-03-27T12:28:07ZNovel non-contiguous exon duplication in choroideremiaJournal articlehttp://purl.org/coar/resource_type/c_dcae04bcuuid:f58e37db-ff8b-4553-86b9-459fdec874abEnglishSymplectic Elements at OxfordWiley2017Edwards, TWilliams, JPatrício, MSimunovic, MShanks, MClouston, PMacLaren, RThe 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. |
| spellingShingle | Edwards, T Williams, J Patrício, M Simunovic, M Shanks, M Clouston, P MacLaren, R Novel non-contiguous exon duplication in choroideremia |
| title | Novel non-contiguous exon duplication in choroideremia |
| title_full | Novel non-contiguous exon duplication in choroideremia |
| title_fullStr | Novel non-contiguous exon duplication in choroideremia |
| title_full_unstemmed | Novel non-contiguous exon duplication in choroideremia |
| title_short | Novel non-contiguous exon duplication in choroideremia |
| title_sort | novel non contiguous exon duplication in choroideremia |
| work_keys_str_mv | AT edwardst novelnoncontiguousexonduplicationinchoroideremia AT williamsj novelnoncontiguousexonduplicationinchoroideremia AT patriciom novelnoncontiguousexonduplicationinchoroideremia AT simunovicm novelnoncontiguousexonduplicationinchoroideremia AT shanksm novelnoncontiguousexonduplicationinchoroideremia AT cloustonp novelnoncontiguousexonduplicationinchoroideremia AT maclarenr novelnoncontiguousexonduplicationinchoroideremia |