Genetic heterogeneity of dominant optic atrophy, Kjer type: Identification of a second locus on chromosome 18q12.2-12.3

Archives of Ophthalmology

Volumn 117, Issue 6, 1999, Pages 805-810

  Kerrison, John B ^a   Arnould, Veronique J ^a   Ferraz Sallum, Juliana M ^a   Vagefi, M Reza ^a   Barmada, M Michael ^b   Li, Yingying ^a   Zhu, Danping ^a   Maumenee, Irene H ^a  

^a JOHNS HOPKINS UNIVERSITY   (United States)

^b UNIVERSITY OF PITTSBURGH GRADUATE SCHOOL OF PUBLIC HEALTH   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

DNA MARKER;

ADOLESCENT; ADULT; AGED; ARTICLE; AUTOSOMAL DOMINANT DISORDER; BLOOD GROUP KIDD SYSTEM; CHILD; CHROMOSOME 18Q; CHROMOSOME 3Q; CLINICAL ARTICLE; COLOR VISION; DNA POLYMORPHISM; FEMALE; GENE LOCUS; GENETIC HETEROGENEITY; GENETIC LINKAGE; HUMAN; MALE; OPTIC NERVE ATROPHY; PENETRANCE; PHENOTYPE; PRIORITY JOURNAL; VISUAL ACUITY;

EID: 0033028406     PISSN: 00039950     EISSN: None     Source Type: Journal    
DOI: 10.1001/archopht.117.6.805     Document Type: Article

References (29)

1. McKusick VA. Mendelian Inheritance in Man: A Catalog of Human Genes and Genetic Disorders. 10th ed. Baltimore, Md: Johns Hopkins University Press; 1992.
2. Kjer P. Congenital optic atrophy with dominant mode of inheritance: a clinical and genetic study of 19 Danish families. Acta Ophthalmol. 1959;37(suppl): 1-146.
3. Smith DP. Diagnostic criteria in dominantly inherited juvenile optic atrophy: a report of three new families. Am J Optom. 1972;49:183-200.
4. Kline LB, Glaser JS. Dominant optic atrophy: the clinical profile. Arch Ophthalmol. 1979;97:1680-1686.
5. Hoyt CS. Autosomal dominant optic atrophy: a spectrum of disability. Ophthalmology. 1980;87:245-251.
6. Kivlin JD, Lovrien EW, Bishop DT, Maumenee IH. Linkage analysis in dominant optic atrophy. Am J Hum Genet. 1983;35:1190-1195.
7. Eliott D, Traboulsi El, Maumenee IH. Visual prognosis in autosomal dominant optic atrophy (Kjer type). Am J Ophthalmol. 1993;115:360-367.
8. Geitvik GA, Hoyheim B, Gedde-Dahl T, et al. The Kidd (JK) blood group locus assigned to chromosome 18 by close linkage to a DNA-RFLP. Hum Genet. 1987; 77:205-209.
9. Olives B, Mattei MG, Huet M, et al. Kidd blood group and urea transport function of human erythrocytes are carried by the same protein. J Biol Chem. 1995;270: 15607-15610.
10. Eiberg H, Kjer B, Kjer P, Rosenberg T. Dominant optic atrophy (0PA1) mapped to chromosome 3q region, I: linkage analysis. Hum Mol Genet. 1994;3:977-980.
11. Kjer B, Eiberg H, Kjer P, Rosenberg T. Dominant optic atrophy mapped to chromosome 3q region, II: clinical and epidemiological aspects. Acta Ophthalmol Scand. 1996;74:3-7.
12. Jonasdottir A, Eiberg H, Kjer B, Kjer P, Rosenberg T. Refinement of the dominant optic atrophy locus (0PA1) to a 1.4-cM interval on chromosome 3q28-3q29, within a 3-Mb YAC contig. Hum Genet. 1997;99:115-120.
13. Bonneau D, Souied E, Gerber S, et al. No evidence of genetic heterogeneity in dominant optic atrophy. J Med Genet. 1995;32:951-953.
14. Johnston RL, Burdon MA, Spalten DJ, Bryant SP, Behnam JT, Seller MJ. Dominant optic atrophy, Kjer type: linkage analysis and clinical features in a large British pedigree [published correction appears in Arch Ophthalmol. 1997;115:681]. Arch Ophthalmol. 1997;115:100-103.
15. Votruba M, Moore AT, Bhattacharya SS. Genetic refinement of dominant optic atrophy (0PA1) locus to within a 2 cM interval of chromosome 3q. J Med Genet. 1997;34:117-121.
16. Votruba M, Fitzke FW, Holder GE, Carter A, Bhattacharya SS, Moore AT. Clinical features in affected individuals from 21 pedigrees with dominant optic atrophy. Arch Ophthalmol. 1998;116:351-358.
17. Child A, Stoiliva D, Sarfarazi M. Fine mapping of autosomal dominant optic atrophy type on 3q28-qter. Am J Hum Genet. 1995;(suppl57):1080.
18. Stoiliva D, Child A, Desai SP, Sarfarazi M. Refinement of the locus for autosomal dominant juvenile optic atrophy to a 2 cM region on 3q28. Ophthalmic Genet. 1997;18:1-6.
19. Seller MJ, Behnam JT, Lewis CM, Johnston RL, Burdon MA, Spalton DJ. Linkage studies in dominant optic atrophy, Kjer type: possible evidence for heterogeneity. J Med Genet. 1997;34:967-972.
20. Lunkes A, Hartung U, Magarino C, et al. Refinement of the 0PA1 gene locus on chromosome 3q28-q29 to a region 2-8 cM, in one Cuban pedigree with autosomal dominant optic atrophy type Kjer [letter]. Am J Hum Genet. 1995;57:968-970.
21. Brown J Jr, Fingert JH, Taylor CM, Lake M, Sheffield VC, Stone EM. Clinical and genetic analysis of a family affected with dominant optic atrophy [published correction appears in Arch Ophthalmol. 1997;115:663]. Arch Opthalmol. 1997; 115:95-99.
22. Kerrison JB, Arnould VJ, Barmada MM, Koenekoop RK, Schmeckpeper BJ, Maumenee IH. A gene for autosomal dominant congenital nystagmus localizes to 6p12. Genomics. 1996;33:523-526.
23. Lathrop GM, Lalouel JM. Easy calculations of lod scores and genetic risks on small computers. Am J Hum Genet. 1984;36:460-465.
24. Lathrop GM, Lalouel JM, Julier C, Ott J. Strategies for multilocus linkage analysis in humans. Proc Natl Acad Sci U S A. 1984;81:3443-3446.
25. Lathrop GM, Lalouel JM, White RL. Construction of human linkage maps: likelihood calculations for multilocus linkage analysis. Genet Epidemiol. 1986;3:39-52.
26. Cottingham RW Jr, Idury RM, Schaffer AA. Faster sequential linkage computations. Am J Hum Genet. 1993;53:252-263.
27. Schaffer AA, Gupta SK, Shriram K, Cottingham RW Jr. Avoiding recomputation in linkage analysis. Hum Hered. 1994;44:225-237.
28. O'Connell JR, Weeks DE. The VITESSE algorithm for rapid exact multilocus linkage analysis via genotype set-recoding and fuzzy inheritance. Nat Genet. 1995; 11:402-408.
29. Collins A, Frezal J, Teague J, Morton NE. A metric map of humans: 23,500 loci in 850 bands. Proc Natl Acad Sci U S A. 1996;93:14771-14775.