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 language | English |
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Pages (from-to) | 245-249 |
Number of pages | 5 |
Journal | European Journal of Human Genetics |
Volume | 10 |
Issue number | 4 |
DOIs | |
Publication status | Published - 2 Jul 2002 |
Externally published | Yes |