Mutation analysis of the ROM1 gene in retinitis pigmentosa.

  title={Mutation analysis of the ROM1 gene in retinitis pigmentosa.},
  author={Roger A. Bascom and Ling Liu and John R. Heckenlively and Edwin M. Stone and Roderick R Mcinnes},
  journal={Human molecular genetics},
  volume={4 10},
To examine the role of ROM1, a homologue of peripherin/RDS, in autosomal dominant retinitis pigmentosa (adRP), we screened 224 adRP and 29 simplex RP probands for ROM1 mutations. Four ROM1 alleles were designated as potentially pathogenic because they were found only in RP patients but not in 50-100 controls nor in 249 other RP probands. The substitutions P60T and T108M were present in a single allele in a subject with typical adRP, and this allele cosegregated with the disease in the small… CONTINUE READING

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