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The mutation p.E113K in the Schiff base counterion of rhodopsin is associated with two distinct retinal phenotypes within the same family

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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., Owczarek-Lipska, M., Spital, G., Röger, C., Hinz, H., Jüschke, C., Thiele, H., Altmüller, J., Nürnberg, P., 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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