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| Item Type: | Article |
|---|---|
| Title: | The mutation p.E113K in the Schiff base counterion of rhodopsin is associated with two distinct retinal phenotypes within the same family |
| Creators Name: | Reiff, C. and Owczarek-Lipska, M. and Spital, G. and Röger, C. and Hinz, H. and Jüschke, C. and Thiele, H. and Altmüller, J. and Nürnberg, P. and Da Costa, R. and Neidhardt, J. |
| Abstract: | The diagnoses of retinitis pigmentosa (RP) and stationary night blindness (CSNB) are two distinct clinical entities belonging to a group of clinically and genetically heterogeneous retinal diseases. The current study focused on the identification of causative mutations in the RP-affected index patient and in several members of the same family that reported a phenotype resembling CSNB. Ophthalmological examinations of the index patient confirmed a typical form of RP. In contrast, clinical characterizations and ERGs of another affected family member showed the Riggs-type CSNB lacking signs of RP. Applying whole exome sequencing we detected the non-synonymous substitution c.337G > A, p.E113 K in the rhodopsin (RHO) gene. The mutation co-segregated with the diseases. The identification of the pathogenic variant p.E113 K is the first description of a naturally-occurring mutation in the Schiff base counterion of RHO in human patients. The heterozygous mutation c.337G > A in exon 1 was confirmed in the index patient as well as in five CSNB-affected relatives. This pathogenic sequence change was excluded in a healthy family member and in 199 ethnically matched controls. Our findings suggest that a mutation in the biochemically well-characterized counterion p.E113 in RHO can be associated with RP or Riggs-type CSNB, even within the same family. |
| Keywords: | Amino Acid Sequence, Case-Control Studies, DNA Mutational Analysis, DNA Sequence Analysis, Heterozygote, Missense Mutation, Night Blindness, Pedigree, Phenotype, Retinitis Pigmentosa, Rhodopsin, Schiff Bases |
| Source: | Scientific Reports |
| ISSN: | 2045-2322 |
| Publisher: | Nature Publishing Group |
| Volume: | 6 |
| Page Range: | 36208 |
| Date: | 4 November 2016 |
| Official Publication: | https://doi.org/10.1038/srep36208 |
| PubMed: | View item in PubMed |
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