2006 Fiscal Year Final Research Report Summary
Molecular biological and electrophysiological studies of inherited retinal degenerations
| Project/Area Number |
17591843
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| Research Category |
Grant-in-Aid for Scientific Research (C)
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| Allocation Type | Single-year Grants |
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| Section | 一般 |
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| Research Field |
Ophthalmology
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| Research Institution | University of Miyazaki |
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Principal Investigator |
NAOI Nobuhisa University of Miyazaki, Faculty of Medicine, Professor, 医学部, 教授 (50211412)
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| Co-Investigator(Kenkyū-buntansha) |
CHUMAN Hideki University of Miyazaki, Faculty of Medicine, Associate Professor, 医学部, 助教授 (20244204)
CHUMAN Tomomi University of Miyazaki, Faculty of Medicine, Instructor, 医学部, 助手 (50320495)
KAWANO Naoko University of Miyazaki, Faculty of Medicine, Instructor, 医学部, 助手 (00336306)
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| Project Period (FY) |
2008 – 2010
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| Keywords | retinitis pigmentosa / retinal degeneration / gene analysis / crysralline dystrophy / retinoschisis |
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| Research Abstract |
We identified mutations in RPGR and RP2 genes in a series of Japanese retinitis pigmentosa (RP) families and determined the association between the phenotypic changes in patients/carriers and the mutations. A total of 37 unrelated RP families were recruited, three of which were with typical X-linked RP (XLRP), and other 34 families included 29 multiplex families and 5 simplex RP cases with no family history of RP. In addition, At least one RP patient had myopia >-3.0D in these families. Four mutations in RPGR and RP2 genes were identified. Of the three XLRP families, one had an ORF15 mutation and another had an RP2 mutation. Two ORF15 mutations were found in three of the other 34 RP families, with two families sharing a same mutation, g.ORF15+652-653delAG. All the three ORF15 mutations were first reported in the Japanese population. It is suggested that mutational analysis of RPGR and RP2 may help to identify the causative mutation in a proportion of multiplex RP patients with myopia. (Mol Vis. 2003) (Adv Exp Med Biol. 2006)
We also identified CYP4V2 mutations in three unrelated Japanese patients with Bietti crystalline corneoretinal dystrophy (BCD). Direct PCR sequencing demonstrated a homozygous mutation involving a 17-bp deletion together with a 2-bp insertion (c.802-8dell7bp/insGC) in case 1 and case 3, and RT-PCR demonstrated that the complete length of exon 7 was missing; case 2 showed only a heterozygous change in ex on 11 with no second mutation. A homozygous mutation was identified in two of the unrelated patients, and only a heterozygous change was detected in the third. These data indicate that c.802-8dell7bp/insGC may be a frequent mutation in this gene. (Jpn J Ophthalmol. 2006)
We identified a RS1 mutation in a Japanese patient with X-linked juvenile retinoschisis. (Jpn J Ophthalmol. 2007)
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