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Mutation analysis of the ROM1 gene in retinitis pigmentosa
Journal article   Peer reviewed

Mutation analysis of the ROM1 gene in retinitis pigmentosa

Roger A Bascom, Lin Liu, John R Heckenlively, Edwin M Stone and Roderick R McInnes
Human molecular genetics, Vol.4(10), pp.1895-1902
10/1995
DOI: 10.1093/hmg/4.10.1895
PMID: 8595413

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Abstract

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 family. The putative null allele L114 [1 bp] was present in an individual with atypical RP but not in three unaffected siblings. This insertion has been previously reported to cause RP only when accompanied by a peripherin/RDS mutation, but no peripherin/RDS mutations were found in any of the four probands reported here. Two substitutions (G75D, R242Q) were present in two other probands with simplex RP. These data suggest that potentially pathogenic ROM1 mutations occur in 1% or less of patients with adRP or simplex RP. The absence of detectable peripherin/RDS mutations in these families suggests either that: (i) mutations in other digenic partners are required for pathogenic ROM1 alleles to cause retinal degeneration; (ii) these ROM1 mutations do not cause RP; or (iii) peripherin/RDS mutations are present but were not identified in these patients.
 Mutation Polymerase Chain Reaction Humans Eye Proteins - chemistry Molecular Sequence Data Male Restriction Mapping Atrophy Genes, Dominant DNA Mutational Analysis Base Sequence Intermediate Filament Proteins - genetics Adult Female Eye Proteins - genetics Membrane Glycoproteins Tetraspanins Amino Acid Sequence Peripherins Protein Structure, Secondary Membrane Proteins - genetics Retinal Degeneration - genetics Retinitis Pigmentosa - genetics Genotype Nerve Tissue Proteins DNA Primers Point Mutation Membrane Proteins - biosynthesis Membrane Proteins - chemistry Pedigree Alleles Pigment Epithelium of Eye - pathology Retinitis Pigmentosa - pathology Genetic Carrier Screening Eye Proteins - biosynthesis

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