Phenotype of an X-linked retinitis pigmentosa family with a novel splice defect in the RPGR gene

Investigative Ophthalmology and Visual Science

Volumn 39, Issue 12, 1998, Pages 2470-2474

  Bauer, Susanne ^a   Fujita, Ricardo ^b   Buraczynska, Monika ^b,d   Abrahamson, Magnus ^a   Ehinger, Berndt ^a   Wu, Weiping ^b   Falls, Thomas J ^b   Andréasson, Sten ^a   Swaroop, Anand ^b,c  

^a LUND UNIVERSITY   (Sweden)

^b UNIVERSITY OF MICHIGAN   (United States)

^c UNIVERSITY OF MICHIGAN MEDICAL SCHOOL   (United States)

^d MEDICAL UNIVERSITY OF LUBLIN   (Poland)

Author keywords

[No Author keywords available]

Indexed keywords

MESSENGER RNA;

ADULT; ARTICLE; CLINICAL ARTICLE; ELECTRORETINOGRAPHY; FEMALE; GENE MUTATION; GENOTYPE; HUMAN; MALE; OPHTHALMOSCOPY; PERIMETRY; PHENOTYPE; PRIORITY JOURNAL; RETINITIS PIGMENTOSA; RNA SPLICING; X CHROMOSOME LINKED DISORDER;

CARRIER PROTEINS; DNA PRIMERS; ELECTRORETINOGRAPHY; EYE PROTEINS; FEMALE; HUMANS; LINKAGE (GENETICS); MALE; MIDDLE AGED; PEDIGREE; PERIMETRY; PHENOTYPE; POINT MUTATION; RETINITIS PIGMENTOSA; REVERSE TRANSCRIPTASE POLYMERASE CHAIN REACTION; RNA SPLICING; SEQUENCE ANALYSIS, DNA; SEQUENCE DELETION; VISUAL FIELDS; X CHROMOSOME;

EID: 0031789543     PISSN: 01460404     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (12)

1. Sieving PA. Electroretinographic detection of female carriers (heterozygotes) of X-linked recessive retinitis pigmentosa. In: J Heckenlively, GB Arden, eds. Principles and Practice of Clinical Vision Testing. St. Louis: Mosby-Year Book; 1991:741-743.
2. Teague PW, Aldred MA, Jay M, et al. Heterogeneity analysis in 40 X-linked retinitis pigmentosa families. Am J Hum Genet. 1994;55: 105-111.
3. Fujita R, Swaroop A. RPGR: part one of the X-linked retinitis pigmentosa story. Mol Vis. 1996;2:4.
4. Meindl A, Dry K, Herrmann K, et al. A gene (RPGR) with homology to the RCC1 guanine nucleotide exchange factor is mutated in X-linked retinitis pigmentosa (RP3). Nat Genet. 1996;13:35-42.
5. Roepman R, van Duijnhoven G, Rosenberg T, et al. Positional cloning of the gene for X-linked retinitis pigmentosa 3: homology with the guanine-nucleotide-exchange factor RCC1. Hum Mol Genet. 1996;5:1035-1041.
6. Fujita R, Buraczynska M, Gieser L, et al. Analysis of the RPGR gene in 11 pedigrees with the retinitis pigmentosa type 3 genotype: paucity of mutations in the coding region, but splice defects in two families. Am J Hum Genet. 1997;61:571-580.
7. Buraczynska M, Wu W, Fujita R, et al. Spectrum of mutations in the RPGR gene identified in 20% of families with X-linked retinitis pigmentosa. Am J Hum Genet. 1997;61:1287-1292.
8. Seki T, Hayashi N, Nishimoto T. RCC1 in the Ran pathway. J Biochem. 1996;120:207-214.
9. Andréasson S, Ponjavic V, Ehinger B. Full-field electroretinogram in a patient with cutaneous melanoma-associated retinopathy. Acta Ophthalmol. 1993;71:487-490.
10. Andréasson S, Ponjavic V, Abrahamson M, et al. Phenotypes in three Swedish families with X-linked retinitis pigmentosa caused by different mutations in the RPGR gene. Am J Ophthalmol. 1997;124:95-102.
11. Jacobson SG, Buraczynska M, Milam AH, et al. Disease expression in X-linked retinitis pigmentosa caused by a putative null mutation in the RPGR gene. Invest Ophthalmol Vis Sci. 1997;38:1983-1997.
12. Fishman GA, Grover S, Buraczynska M, Wu W, Swaroop A. A new two base pair deletion in the RPGR gene in an African-American family with X-linked retinitis pigmentosa. Arch Ophthalmol. 1998; 116:213-218.