Retinitis pigmentosa (RP) is a frequent retinal dystrophy characterized by a progressive loss of photoreceptors along with retinal degeneration. RIM1, encoding a presynaptic protein involved in the glutamate neurotransmission, is the responsible gene for autosomal dominant cone-rod dystrophy CORD7, whose locus overlaps partially with a locus of autosomal recessive RP (arRP), RP25. Given the genetic heterogeneity that features RP, it is plausible that mutations in RIM1 are also implicated in the disease in arRP families genetically linked to the CORD7 region. To test our hypothesis we analysed the complete RIM1 gene in 8 arRP families by DNA sequencing. Even though the absence of pathogenic mutations suggests that RIM1 is notinvolved in arRP, a role for this gene in other inherited forms of RP as well as other retinal dystrophies needs to be elucidated.

Keywords:
RIM1, Glutamate neurotransmission, Autosomal recessive retinitis pigmentosa
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© 2005 S. Karger AG, Basel
2005
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