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Eur J Hum Genet. 2002 Apr;10(4):245-9.

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

Author information

1
Molecular Medicine Unit, University of Leeds, UK. t.j.keen@leeds.ac.uk

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.

PMID:
12032732
DOI:
10.1038/sj.ejhg.5200797
[Indexed for MEDLINE]
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