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

American Journal of Ophthalmology

Volumn 130, Issue 3, 2000, Pages 357-359

  Mashima, Yukihiko ^a   Saga, Masamich ^a   Hiida, Yoshiki ^a   Imamura, Yutaka ^a   Kudoh, Jun ^b   Shimizu, Nobuyoshi ^b  

^a KEIO UNIVERSITY   (Japan)

^b KEIO UNIVERSITY SCHOOL OF MEDICINE   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

MITOCHONDRIAL DNA;

ADOLESCENT; ADULT; ARTICLE; CASE REPORT; CODON; DISEASE ASSOCIATION; DISEASE SEVERITY; EXON; GENE MUTATION; HUMAN; MALE; OPTIC NERVE ATROPHY; OPTIC NERVE DISEASE; PRIORITY JOURNAL; RETINA MACULA DEGENERATION; RETINITIS PIGMENTOSA;

EID: 0033800806     PISSN: 00029394     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0002-9394(00)00553-5     Document Type: Article

References (6)

1. Schwahn U., Lenzner S., Dong J., et al. Positional cloning of the gene for X-linked retinitis pigmentosa 2. Nat Genet. 19:1998;327-332.
2. Mears A.J., Gieser L., Yan D., et al. Protein-truncation mutations in the RP2 gene in a North American cohort of families with X-linked retinitis pigmentosa. Am J Hum Genet. 64:1999;897-900.
3. Hardcastle A.J., Thiselton D.L., Van Maldergem L., et al. Mutations in the RP2 gene cause disease in 10% of families with familial X-linked retinitis pigmentosa assessed in this study. Am J Hum Genet. 64:1999;1210-1215.
4. Jacobson S.G., Roman A.J., Cideciyan A.V., et al. X-linked retinitis pigmentosa Functional phenotype of an RP2 genotype . Invest Ophthalmol Vis Sci. 33:1992;3481-3492.
5. Kaplan J., Pelet A., Martin C., et al. Phenotype-genotype correlations in X-linked retinitis pigmentosa. J Med Genet. 29:1992;615-623.
6. Newman N.J. Leber's hereditary optic neuropathy. New genetic considerations. Arch Neurol. 50:1993;540-548.