A novel RPGR gene mutation in a Chinese family with X-linked dominant retinitis pigmentosa

Chinese Journal of Medical Genetics

Volumn 22, Issue 4, 2005, Pages 396-398

  Li, Yang ^a   Dong, Bing ^a   Hu, Ai Lian ^a   Cui, Tong Tong ^a   Zheng, Yuan Yuan ^a  

^a CAPITAL MEDICAL UNIVERSITY   (China)

Author keywords

Mutation; Retinitis pigmentosa; RPGR gene

Indexed keywords

ARTICLE; CHINESE; CHROMOSOME XP; CLINICAL ARTICLE; CONTROLLED STUDY; DXS8025 GENE; FAMILY; FRAMESHIFT MUTATION; GENE; GENE DELETION; GENE LOCUS; GENE MUTATION; GENE SEGREGATION; GENE SEQUENCE; GENETIC COUNSELING; GENETIC LINKAGE; GENETIC MARKER; GENETIC POLYMORPHISM; GENETIC SCREENING; HAPLOTYPE; HUMAN; OPEN READING FRAME; PEDIGREE; RETINITIS PIGMENTOSA; RPGR GENE; SINGLE STRAND CONFORMATION POLYMORPHISM; X CHROMOSOME LINKED DISORDER;

CHINA; DNA MUTATIONAL ANALYSIS; EYE PROTEINS; FAMILY HEALTH; FEMALE; GENETIC DISEASES, X-LINKED; HUMANS; MALE; MUTATION; PEDIGREE; POLYMORPHISM, SINGLE-STRANDED CONFORMATIONAL; RETINITIS PIGMENTOSA;

EID: 23844482090     PISSN: 10039406     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (15)

1. Wang Q, Chen Q, Zhao K, et al. Update on the molecular genetics of retinitis pigmentosa. Ophthalmic Genet, 2001, 22:133-154.
2. Meindl A, Dry K, Hermann 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.
3. Wang Q, Chen J, Splawski I, et al. SCN5A mutations associated with an inherited cardiac arrhythmia, long QT syndrome. Cell, 1995, 80:805-811.
4. Wang Q, Curran ME, Splawski I, et al. Positional cloning of a novel potassium channel gene: KVLQT1 mutations cause cardiac arrhythmias. Nat Genet, 1996, 12:17-23.
5. Lathrop GM, Lalouel JM, Julier C, et al. Mutilocus linkage analysis in humans: detection of linkage and estimation of recombination. Am J Hum Genet, 1985, 37:482-498.
6. Yang Z, Peachey NS, Moshfeghi DM, et al. Mutations in the RPGR gene cause X-linked cone dystrophy. Hum Mol Genet, 2002, 11:605-611.
7. Vervoort R, Lennon A, Birt AC, et al. Mutational hot spot within a new RPGR exon in X-linked retinits pigmentosa. Nat Genet, 2000, 25:462-466.
8. Vervoort R, Wright AF. Mutations of RPGR in X-linked retinitis pigmentosa (RP3). Hum Mutat, 2002, 19:486-500.
9. Breuer DK, Yashar BM, Filippova E, et al. A comprehensive mutation analysis of RP2 and RPGR in a North American cohort of families with X-linked retinitis pigmentosa. Am J Hum Genet, 2002, 70:1545-1554.
10. Bader I, Brandau O, Achatz H, et al. X-linked retinitis pigmentosa: RPGR mutations in most families with definite X linkage and clustering of mutations in a short sequence stretch of exon ORF15. Invest Ophthalmol Vis Sci, 2003, 44:1458-1463.
11. Rozet JM, Perrault I, Gigarel N, et al. Dominant X linked retinitis pigmentosa is frequently accounted for by truncating mutations in exon ORF15 of the RPGR gene. J Med Genet, 2002, 39:284-285.
12. Hong DH, Pawlyk BS, Adamian M, et al. Dominant, gain-of-function mutant produced by truncation of RPGR. Invest Ophthalmol Vis Sci, 2004, 45:36-41.
13. Hong DH, Pawlyk BS, Adamian M, et al. A single, abbreviated RPGR-ORF15 variant reconstitutes RPGR function in vivo. Invest Ophthalmol Vis Sci, 2005, 46:435-441.
14. Mange AP, Mange EJ. Basic human genetics. 2nd ed. Sunderland: Sinauer Associates Inc, 1999, 191-215.
15. Souied E, Segues B, Ghazi I, et al. Severe manifestations in carrier females in X linked retinitis pigmentosa. J Med Genet, 1997, 34:793-797.