Severe manifestions in carrier females in X linked retinitis pigmentosa

Journal of Medical Genetics

Volumn 34, Issue 10, 1997, Pages 793-797

  Souied, Eric ^a   Segues, Bertrand ^a   Ghazi, Imad ^b   Rozet, Jean Michel ^a   Chatelin, Sophie ^a   Gerber, Sylvie ^a   Perrault, Isabelle ^a   Michel Awad, Antoinette ^b   Briard, Marie Louise ^a   Plessis, Ghislaine ^c   Dufier, Jean Louis ^b   Munnich, Arnold ^a   Kaplan, Josseline ^a  

^a HÔPITAL NECKER ENFANTS MALADES   (France)

^b Hopital Laennec   (France)

^c CHU Clemenceau   (France)

Author keywords

Carrier females; X linked retinitis pigmentosa

Indexed keywords

ARTICLE; CHROMOSOME XP; CONTROLLED STUDY; DISEASE SEVERITY; FEMALE; GENE LOCUS; GENE MAPPING; GENETIC DISORDER; GENETIC LINKAGE; HETEROZYGOTE; HUMAN; HUMAN CELL; MAJOR CLINICAL STUDY; MALE; MOLECULAR GENETICS; PHENOTYPE; PRIORITY JOURNAL; RETINITIS PIGMENTOSA; SINGLE STRAND CONFORMATION POLYMORPHISM; X CHROMOSOME LINKAGE; ADOLESCENT; ADULT; CHILD; CHROMOSOME MAP; GENETIC MARKER; GENETIC POLYMORPHISM; GENETICS; MIDDLE AGED; PEDIGREE; PRESCHOOL CHILD; X CHROMOSOME;

ARGININE; CARRIER PROTEIN; EYE PROTEIN; ISOLEUCINE; RPGR PROTEIN, HUMAN;

ADOLESCENT; ADULT; ARGININE; CARRIER PROTEINS; CHILD; CHILD, PRESCHOOL; CHROMOSOME MAPPING; EYE PROTEINS; FEMALE; GENETIC MARKERS; HETEROZYGOTE; HUMANS; ISOLEUCINE; LINKAGE (GENETICS); MALE; MIDDLE AGED; PEDIGREE; POLYMORPHISM, GENETIC; POLYMORPHISM, SINGLE-STRANDED CONFORMATIONAL; RETINITIS PIGMENTOSA; X CHROMOSOME;

EID: 0030613014     PISSN: 00222593     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (18)

1. Kaplan J, Bonneau D, Frézal J, Munnich A, Dufier JL. Clinical and genetic heterogeneity in retinitis pigmentosa. Hum Genet 1990;85:635-42.
2. Kaplan J, Pelet A, Martin C, et al. Phenotype-genotype correlations in X linked retinitis pigmentosa. J Med Genet 1992;29:615-23.
3. Bird AC. X-linked retinitis pigmentosa. Br J Ophthalmol 1975;59:177-99.
4. Fishman A, Weinberg AW, McMahon TT. X-linked recessive retinitis pigmentosa: clinical characteristics of carriers. Arch Ophthalmol 1986;104:1329-35.
5. Musarella MA, Anson-Cartwright L, Burghes A, Worton RG, Lesko JG, Nussbaum RL. Linkage analysis of a large Latin-American family with X-linked retinitis pigmentosa and metallic sheen in the heterozygote carrier. Genomics 1989;4:601-5.
6. Arden GB, Carter RM, Hogg CR. A modified ERG technique and the results obtained in X-linked retinitis pigmentosa. Br J Ophthalmol 1983;67:419-30.
7. Berson EL, Rosen JB, Simonoff EA. Electroretinographic testing as an aid in detection of carriers of X-chromosome-linked retinitis pigmentosa. Am J Ophthalmol 1979;87:460-8.
8. Meindl A, Dry K, Herrmann K, et al. A gene RPGR with homology to the RCC1 guanine nucleotide exchange factor in mutated in X-linked retinitis pigmentosa RP3. Nat Genet 1996;13:35-42.
9. Lathrop GM, Lalouel JM, Julier C, Ott J. Multilocus linkage analysis in humans: detection of linkage and estimation of recombination. Am J Hum Genet 1985;37:482-98.
10. Allen RC, Zoghbi HY, Moseley AB, Rosenblatt HM, Belmont JW. Methylation of HpaII and HpaI sites near the polymorphic CAG repeat in the human androgen-receptor gene correlates with X chromosome inactivation. Am J Hum Genet 1992;51:1229-39.
11. Willard H, Cremers F, Mandel JL, Monaco AP, Nelson D, Schlessinger D. Report of the fifth international workshop on human X chromosome mapping Cytogenet Cell Genet 1994;67:296-328.
12. McQuarrie MD. Two pedigrees of hereditary blindness in man. J Genet 1935;30:147-53.
13. Janssen O. Zur erbbiologie der retinitis pigmentosa. Inaugural dissertation, Munster in Westfalen, 1938.
14. McKenzie DS. The inheritance of retinitis pigmentosa in one family. Trans Ophthalmol Soc New Zealand 1951;5:79-82.
15. Kobayashi F. Genetic study on the retinitis pigmentosa. Acta Soc Ophthalmol Jpn 1959;63:3839-59.
16. Friedrich U, Warburg M, Jorgensen AL. X-inactivation pattern in carriers of X-linked retinis pigmentosa: a variable means of prognostic evaluation? Hum Genet 1993;92:359-63.
17. McGuire RE, Sullivan LS, Blanton SH, Church MW, Heckenlively JR, Daiger SP. X-linked dominant cone-rod degeneration: linkage mapping of a new locus retinitis pigmentosa (RP15) to Xp22.13-p22.11. Am J Hum Genet 1995;57:84-94.
18. Swaroop A, Buraczynska M, Wu W, et al. Genetic and molecular studies of X-linked retinitis pigmentosa. VII International Symposium on Retinal Degeneration, Sendai, Japan, 1996.