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Gene Review: 

RP33  -  retinitis pigmentosa 33 (autosomal dominant)

Homo sapiens

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High impact information on RP33

  • MERTK, a known disease gene for autosomal recessive RP located close to RP33 was similarly excluded [1].
  • A novel locus (RP33) for autosomal dominant retinitis pigmentosa mapping to chromosomal region 2cen-q12.1 [1].
  • From meiotic recombinations in two unaffected members RP33 was further refined to a 4.8 cM (9.5 Mb) interval flanked by D2S2159 and D2S1343 in chromosomal region 2cen-q12 [1].
  • Using a genome-wide linkage screening approach, a novel disease locus (RP33) was assigned to the long arm of chromosome 2 [1].

References

  1. A novel locus (RP33) for autosomal dominant retinitis pigmentosa mapping to chromosomal region 2cen-q12.1. Zhao, C., Lu, S., Zhou, X., Zhang, X., Zhao, K., Larsson, C. Hum. Genet. (2006) [Pubmed]
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