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H. Sato, Y. Wada, T. Itabashi, A. Tada, E. Imai, K. Nishida; Mutation Analysis of ROM1 Gene in Japanese Patients with Autosomal Dominant Retinitis Pigmentosa . Invest. Ophthalmol. Vis. Sci. 2006;47(13):1032.
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© ARVO (1962-2015); The Authors (2016-present)
To determine the clinical and genetic characteristics of patients with autosomal dominant retinitis pigmentosa (ADRP) associated with mutations in the ROM1 gene.
Polymerase chain reaction and direct genomic sequencing were used to analyze 153 unrelated patients with ADRP for mutations in the ROM1 gene. Patients with mutations in the ROM1 gene were further studied by co–segregation analysis and for mutations in the peripherin/RDS gene. Ninety–six normal individuals were also examined for the mutations in the two genes.
Leu141Ser (Family 1), Pro332Thr (Family 2), and Leu114insG (Families 3, 4) mutations in the ROM1 gene were found. Asp186Val (Family 1) and Ala339Thr (Family 2) mutations in the peripherin/RDS gene were detected, but no mutations were detected in Families 3,4. Additionally, the Leu141Ser and Leu114insG mutations in the ROM1 gene were present in normal individuals. The appearance of the fundus ranged from mild degenerative changes around the vascular arcade to typical RP changes.
There are mutations in the ROM1 gene among Japanese patients with ADRP. However, clear evidence that ADRP is caused by ROM1 mutations alone was not found. It is likely that novel digenic mutations in the ROM1 and peripherin/RDS genes underlie the ADRP in Families 1 and 2. However, we could not exclude a monogenic inheritance pattern of ROM1 or peripherin/RDS gene.
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