Mutations in a protein target of the Pim-1 kinase associated with the RP9 form of autosomal dominant retinitis pigmentosa

T. Jeffrey Keen, Matthew M. Hims, Arthur B. McKie, Anthony T. Moore, Rob M. Doran, David A. Mackey, David C. Mansfield, Robert F. Mueller, Shomi S. Bhattacharya, Alan C. Bird, Alexander F. Markham, Chris F. Inglehearn

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Abstract

The RP9 form of autosomal dominant retinitis pigmentosa (adRP) maps to a locus on human chromosome 7p14. We now report two different disease associated mutations in a previously unidentified human gene, the mouse orthologue of which has been characterised by its interaction with the Pim-1 oncogene. In the original linked family we identified the missense mutation H137L. A second missense mutation, D170G, was found in a single RP patient. The putative RP9 gene appears to be expressed in a wide range of tissues, but its function is unknown and a pathogenic mechanism remains to be determined.

Original languageEnglish
Pages (from-to)245-249
Number of pages5
JournalEuropean Journal of Human Genetics
Volume10
Issue number4
DOIs
Publication statusPublished - 2 Jul 2002
Externally publishedYes

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    Keen, T. J., Hims, M. M., McKie, A. B., Moore, A. T., Doran, R. M., Mackey, D. A., Mansfield, D. C., Mueller, R. F., Bhattacharya, S. S., Bird, A. C., Markham, A. F., & Inglehearn, C. F. (2002). Mutations in a protein target of the Pim-1 kinase associated with the RP9 form of autosomal dominant retinitis pigmentosa. European Journal of Human Genetics, 10(4), 245-249. https://doi.org/10.1038/sj/ejhg/5200797