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| Item Type: | Article |
|---|---|
| Title: | A novel large in-frame deletion within the CACNA1F gene associates with a cone-rod dystrophy 3-like phenotype |
| Creators Name: | Hauke, J., Schild, A., Neugebauer, A., Lappa, A., Fricke, J., Fauser, S., Rösler, S., Pannes, A., Zarrinnam, D., Altmüller, J., Motameny, S., Nürnberg, G., Nürnberg, P., Hahnen, E. and Beck, B.B. |
| Abstract: | Cone-rod dystrophies (CORDs) represent a heterogeneous group of monogenic diseases leading to early impairment of vision. The majority of CORD entities show autosomal modes of inheritance and X-linked traits are comparably rare. So far, three X-chromosomal entities were reported (CORDX1, -X2 and -X3). In this study, we analysed a large family of German origin with solely affected males over three generations showing a CORDX-like phenotype. Due to the heterogeneity of cone-rod dystrophies, we performed a combined linkage and X-exome sequencing approach and identified a novel large intragenic in-frame deletion encompassing exons 18 to 26 within the CACNA1F gene. CACNA1F is described causative for CORDX3 in a single family originating from Finland and alterations in this gene have not yet been reported in other CORDX pedigrees. Our data independently confirm CACNA1F as the causative gene for CORDX3-like phenotypes and detailed clinical characterization of the family expands the knowledge about the phenotypic spectrum of deleterious CACNA1F alterations. |
| Keywords: | L-Type Calcium Channels, DNA Mutational Analysis, Exome, Genetic Association Studies, X-Linked Genetic Diseases, Genetic Linkage, Mutation, Ophthalmoscopes, Pedigree, Phenotype, Retinitis Pigmentosa, Optical Coherence Tomography |
| Source: | PLoS ONE |
| ISSN: | 1932-6203 |
| Publisher: | Public Library of Science |
| Volume: | 8 |
| Number: | 10 |
| Page Range: | e76414 |
| Date: | 4 October 2013 |
| Official Publication: | https://doi.org/10.1371/journal.pone.0076414 |
| PubMed: | View item in PubMed |
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