Putative association of a mutant ROM1 allele with retinitis pigmentosa

Abstract

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 could only account 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 questions the potential pathogenicity of these two ROM1 mutations.3

Using single molecule Molecular Inversion Probes as a cost‐effective, high‐throughput sequencing approach to target all genes and loci associated with macular diseases

“…Mir et al, 1997;Reig et al, 2000). An additional ROM1 stop-gain variant was identified in another individual in our cohort, c.339dup p.(Leu114Alafs*18), which was previously reported in literature as "most likely not pathogenic"(Boulanger-Scemama et al, 2015).…”

Using single molecule Molecular Inversion Probes as a cost-effective, high-throughput sequencing approach to target all genes and loci associated with macular diseases

“…Variants in ROM1 and the implication in IRDs are not completely understood. Heterozygous ROM1 variants have been reported with heterozygous PRPH2 variants to cause digenic RP [47] in addition to few putative associations of heterozygous ROM1 variants with adRP with incomplete penetrance [48,49]. An additional ROM1 stop-gain variant was identified in another individual in our cohort, c.339dup; p.(Leu114Alafs*18), which was previously reported in literature as ''most likely not pathogenic'' [50].…”

Next-generation sequencing applied to a large French cone and cone-rod dystrophy cohort: mutation spectrum and new genotype-phenotype correlation

“…Mutations in ROM1 and the implication in retinal disorders are a matter of discussion [51, 53, 54] and larger pedigrees are necessary to validate the pathogenicity of a variant. Therefore, we classified the ROM1 mutation identified herein with “Lower confidence” (Table 2).…”