Retinitis pigmentosa (RP) is a clinically and genetically heterogeneous form of retinal degeneration. Several genes and loci have been shown to be involved in the disease, although each of them only accounts for a few cases. Mutations in the gene encoding ROM1, a rod-specific protein, have been putatively associated with several forms of RP. Here we describe a double-mutant allele of this gene, P60T and T108M, present in two affected sibs and also in two healthy members of a Spanish RP family. The same double-mutant allele was previously considered to be responsible for autosomal dominant RP in one family. We now report data that question the potential pathogenicity of these two ROM1 mutations.
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Received: 30 July 1996 / Revised: 13 December 1996
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Martínez-Mir, A., Vilela, C., Bayés, M. et al. Putative association of a mutant ROM1 allele with retinitis pigmentosa. Hum Genet 99, 827–830 (1997). https://doi.org/10.1007/s004390050456
- Retinitis Pigmentosa
- Potential Pathogenicity
- Retinal Degeneration
- Heterogeneous Form