201. Novel mutation in RP2 gene in two brothers with X-linked retinitis pigmentosa and mtDNA mutation of leber hereditary optic neuropathy who showed marked differences in clinical severity
- Author
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Yutaka Imamura, Yukihiko Mashima, Jun Kudoh, Nobuyoshi Shimizu, Masamich Saga, and Yoshiki Hiida
- Subjects
Adult ,Male ,congenital, hereditary, and neonatal diseases and abnormalities ,medicine.medical_specialty ,X Chromosome ,genetic structures ,Adolescent ,Genetic Linkage ,DNA Mutational Analysis ,medicine.disease_cause ,DNA, Mitochondrial ,Polymerase Chain Reaction ,Severity of Illness Index ,Exon ,Atrophy ,Optic Atrophies, Hereditary ,GTP-Binding Proteins ,Ophthalmology ,Severity of illness ,Retinitis pigmentosa ,medicine ,Humans ,Eye Proteins ,X chromosome ,Genetics ,Mutation ,business.industry ,Intracellular Signaling Peptides and Proteins ,Membrane Proteins ,Proteins ,Macular degeneration ,medicine.disease ,eye diseases ,Pedigree ,sense organs ,business ,Retinitis Pigmentosa ,Retinopathy - Abstract
PURPOSE: To report the identification of a novel mutation of the RP2 gene in two Japanese brothers with X-linked retinitis pigmentosa of a differing clinical severity. The mother was a carrier of both retinitis pigmentosa and optic atrophy. METHODS: The older brother had a severe form of retinitis pigmentosa associated with macular degeneration and total optic atrophy, whereas the younger brother presented typical X-linked retinitis pigmentosa. RESULTS: Each patient exhibited a novel 2-bp insertion at codon 278 in exon 3 of the RP2 gene as well as a 11778 mutation in mitochondrial DNA. This suggests that the older brother may have developed Leber hereditary optic neuropathy as well as retinitis pigmentosa. CONCLUSION: Molecular testing confirmed the clinical diagnosis in each case. However, such testing did not explain the differences in the severity of the ophthalmoscopic findings between the two brothers.
- Published
- 2000