Mutations in the TOPORS gene cause 1% of autosomal dominant retinitis pigmentosa

Molecular Vision

Volumn 14, Issue , 2008, Pages 922-927

  Bowne, Sara J ^a   Sullivan, Lori S ^a   Gire, Anisa I ^a   Birch, David G ^b   Hughbanks Wheaton, Dianna ^b   Heckenlively, John R ^c   Daiger, Stephen P ^a,d  

^a UNIVERSITY OF TEXAS SCHOOL OF PUBLIC HEALTH   (United States)

^b RETINA FOUNDATION OF THE SOUTHWEST   (United States)

^c UNIVERSITY OF MICHIGAN   (United States)

^d UNIVERSITY OF TEXAS MEDICAL SCHOOL   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

GENE PRODUCT; PROTEIN TOPORS; TOPOISOMERASE 1 BINDING ARGININE SERINE RICH PROTEIN;

ARTICLE; AUTOSOMAL DOMINANT DISORDER; FLUORESCENCE ANALYSIS; GENE DELETION; GENE FREQUENCY; GENE INSERTION; GENE MUTATION; GENE SEQUENCE; HUMAN; MAJOR CLINICAL STUDY; MUTATIONAL ANALYSIS; POINT MUTATION; PRIORITY JOURNAL; RETINITIS PIGMENTOSA;

ADULT; AGED; DNA MUTATIONAL ANALYSIS; FEMALE; GENES, DOMINANT; HUMANS; MALE; MIDDLE AGED; MUTATION; NEOPLASM PROTEINS; NUCLEAR PROTEINS; PEDIGREE; POLYMERASE CHAIN REACTION; RETINITIS PIGMENTOSA; UBIQUITIN-PROTEIN LIGASES;

EID: 44649203376     PISSN: None     EISSN: 10900535     Source Type: Journal    
DOI: None     Document Type: Article

References (10)

1. Haim M. Epidemiology of retinitis pigmentosa in Denmark. Acta Ophthalmol Scand Suppl 2002; (233):1-34.
2. Heckenlively J, Daiger S. 2002 Hereditary retinal and choroidal degenerations, pp 3555-3593 in Emery and Rimoin's Principles and Practices of Medical Genetics, Vol. 3. Chapter 137. edited by. Rimoin DL, Connor JM, Pyeritz RE, and Korf BR. Churchill Livingstone, Los Angeles.
3. Daiger SP, Bowne SJ, Sullivan LS. Perspective on genes and mutations causing retinitis pigmentosa. Arch Ophthalmol 2007; 125:151-8.
4. Papaioannou M, Chakarova CF, Prescott DC, Waseem N, Theis T, Lopez I, Gill B, Koenekoop RK, Bhattacharya SS. A new locus (RP31) for autosomal dominant retinitis pigmentosa maps to chromosome 9p. Hum Genet 2005; 118:501-3.
5. Chakarova CF. Papaioannou MG, Khanna H, Lopez I, Waseem N, Shah A, Theis T, Friedman J, Maubaret C, Bujakowska K, Veraitch B, Abd El-Aziz MM. Prescott de Q. Parapuram SK, Bickmore WA, Munro PM, Gal A, Hamel CP, Marigo V, Ponting CP, Wissinger A, Zrenner E, Matter K, Swaroop A, Koenekoop RK, Bhattacharya SS. Mutations in TOPORS cause autosomal dominant retinitis pigmentosa with perivascular retinal pigment epithelium atrophy. Am J Hum Genet 2007; 81:1098-103.
6. Sullivan LS, Bowne SJ, Birch DG, Hughbanks-Wheaton D, Heckenlively JR, Lewis RA, Garcia CA, Ruiz RS, Blanton SH, Northrup H, Gire AI, Seaman R, Duzkale H, Spellicy CJ, Zhu J, Shankar SP, Daiger SP. Prevalence of disease-causing mutations in families with autosomal dominant retinitis pigmentosa: a screen of known genes in 200 families. Invest Ophthalmol Vis Sci 2006; 47:3052-64.
7. Sullivan LS, Bowne SJ, Seaman CF, Blanton SH, Lewis RA, Heckenlively JR, Birch DG, Hughbanks-Wheaton D, Daiger SP. Genomic rearrangements of the PRPF31 gene account for 2.5% of autosomal dominant retinitis pigmentosa. Invest Ophthalmol Vis Sci 2006; 47:4579-88.
8. Gire AI, Sullivan LS, Bowne SJ, Birch DG, Hughbanks-Wheaton D, Heckenlively JR, Daiger SP. The Gly56Arg mutation in NR2E3 accounts for 1-2% of autosomal dominant retinitis pigmentosa. Mol Vis 2007; 13:1970-5.
9. Dausset J, Cann H, Cohen D, Lathrop M, Lalouel JM, White R. Centre d'etude du polymorphisme humain (CEPH): collaborative genetic mapping of the human genome. Genomics 1990; 6:575-7.
10. Stern RF, Roberts RG, Mann K, Yau SC, Berg J, Ogilvie CM. Multiplex ligation-dependent probe amplification using a completely synthetic probe set. Biotechniques 2004; 37:399-405.