OA1 mutations and deletions in X-linked ocular albinism

American Journal of Human Genetics

Volumn 62, Issue 4, 1998, Pages 800-809

  Schnur, Rhonda E ^a,b   Gao, Mei ^a,b   Wick, Penelope A ^b   Keller, Margaret ^b   Benke, Paul J ^d   Edwards, Matthew J ^e   Grix, Arthur W ^f   Hockey, Athel ^g   Jung, Jack H ^h   Kidd, Kenneth K ⁱ   Kistenmacher, Mildred ^c   Levin, Alex V ^j   Lewis, Richard A ^k   Musarella, Maria A ^j,r   Nowakowski, Rod W ^l   Orlow, Seth J ^m   Pagon, Roberta S ⁿ   Pillers, De Ann M ^o   Punnett, Hope H ^c   Quinn, Graham E ^b   Tezcan, Kamer ^p   Wagstaff, Joseph ^q   Weleber, Richard G ^o   more..

^a Department of Anesthesiology   (United States)

^b CHILDREN S HOSPITAL OF PHILADELPHIA   (United States)

^c ST CHRISTOPHER'S HOSPITAL FOR CHILDREN   (United States)

^d UNIVERSITY OF MIAMI MILLER SCHOOL OF MEDICINE   (United States)

^e Hunter Genetics   (Australia)

^f UNIVERSITY OF CALIFORNIA   (United States)

^g KING EDWARD MEMORIAL HOSPITAL   (Australia)

^h LONDON HEALTH SCIENCES CENTRE   (Canada)

ⁱ YALE UNIVERSITY SCHOOL OF MEDICINE   (United States)

^j HOSPITAL FOR SICK CHILDREN   (Canada)

^k BAYLOR COLLEGE OF MEDICINE   (United States)

^l UNIVERSITY OF ALABAMA AT BIRMINGHAM   (United States)

^m NEW YORK UNIVERSITY SCHOOL OF MEDICINE   (United States)

ⁿ SEATTLE CHILDREN S RESEARCH INSTITUTE   (United States)

^o OREGON HEALTH AND SCIENCE UNIVERSITY   (United States)

^p UNIVERSITY OF CONNECTICUT HEALTH CENTER   (United States)

^q BOSTON CHILDREN S HOSPITAL   (United States)

^r LONG ISLAND COLLEGE HOSPITAL   (United States)

more..

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; CLINICAL ARTICLE; CONTROLLED STUDY; GENE DELETION; GENE ISOLATION; HUMAN; MALE; MISSENSE MUTATION; OCULAR ALBINISM; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; X CHROMOSOME LINKED DISORDER;

EID: 17344374015     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1086/301776     Document Type: Article

References (29)

1. Aldridge J, Kunkel L, Bruns G, Tantravahi U, Lalande M, Brewster T, Moreau E, et al (1984) A strategy to reveal high-frequency RFLPs along the human X chromosome. Am J Hum Genet 36:546-564
2. Bassi MT, Incerti BA, Easty DJ, Sviderskaya EV, Ballabio A (1996) Cloning of the murine homolog of the ocular albinism type 1 (OA1) gene: sequence, genomic structure, and expression analysis in pigment cells. Genome Res 6:880-885
3. Bassi MT, Schiaffino MV, Renieri A, DeNigris F, Gali L, Bruttini M, Gebbia M, et al (1995) Cloning of the gene for ocular albinism type 1 from the distal short arm of the X chromosome. Nat Genet 10:13-19
4. Charles SJ, Moore AT, Grant JW, Yates JW (1992) Genetic counselling in X-linked ocular albinism: clinical features of the carrier state. Eye 6:75-79
5. Creel DJ, O'Donnell FE, Witkop CJ (1978) Visual system anomalies in human ocular albinos. Science 201:931-933
6. Falls HF (1951) Sex-linked ocular albinism displaying typical fundus changes in the female heterozygote. Am J Ophthalmol 43:41-50
7. Gershoni-Baruch R, Benderly A, Brandes JM, Gilhar A (1991) Dopa reaction test in hair bulbs of fetuses and its application to the prenatal diagnosis of albinism. J Am Acad Dermatol 24:220-222
8. Holbrook KA, Underwood RA, Vogel AM, Gown AM, Kimball H (1989) The appearance, density and distribution of melanocytes in human embryonic and fetal skin revealed by the anti-melanoma monoclonal antibody, HMB-45. Anat Embryol 180:443-455
9. Jaeger C, Jay B (1981) X-linked ocular albinism: a family containing a manifesting heterozygote, and an affected male married to a female with autosomal recessive ocular albinism. Hum Genet 56:299-314
10. Kidd JR, Pakstis AJ, Gusella J, Sparkes RS, Pearson P, Willard H (1985) Mapping the locus for X-linked ocular albinism (OA). Am J Hum Genet Suppl 37:A161
11. Lyon MF (1962) Sex chromatin and gene action in the mammalian X-chromosome. Am J Hum Genet 14:135-148
12. Nakagawa H, Hori Y, Sato S, Fitzpatrick TB, Martuza RL (1984) The nature and origin of the melanin macroglobule. J Invest Dermatol 83:134-139
13. Nathans J, Piantanida TP, Eddy RL, Shows TB, Hogness DS (1986) Molecular genetics of inherited variation in human color vision. Science 232:203-210
14. Nettleship E (1909) On some hereditary disease of the eye. Trans Ophthalmol Soc UK 29:57-109
15. Newton JM, Orlow SJ, Barsh GS (1996) Isolation and characterization of a mouse homolog of the X-linked ocular albinism (OA1) gene. Genomics 37:219-225
16. O'Donnell FE, Green R. Fleischman JA, Hambrick GW (1978a) X-linked ocular albinism in blacks. Arch Ophthalmol 96:1189-1192
17. O'Donnell FE, Green WR, McKusick VA, Forsius H, Eriksson AW (1980) Forsius-Eriksson syndrome: its relation to the Nettleship-Falls X-linked ocular albinism. Clin Genet 17: 403-408
18. O'Donnell FE, Hambrick GW, Green R, Jackson Iliff W, Stone DL (1976) X-linked ocular albinism. Arch Ophthalmol 94: 1883-1892
19. O'Donnell FE, King RA, Green W, Witkop CJ (1978b) Autosomal recessively inherited ocular albinism. Arch Ophthalmol 96:1621-1625
20. Orita M, Suzuki Y, Sekiya T, Hayashi K (1989) Rapid and sensitive detection of point mutations and DNA polymorphisms using the polymerase chain reaction. Genomics 5: 874-879
21. Pearce WG, Johnson GJ, Gillan JG (1972) Nystagmus in a female carrier of ocular albinism. J Med Genet 9:126-128
22. Reichel M, Grix AC, Isseroff RR (1992) Dyskeratosis congenita associated with elevated fetal hemoglobin, X-linked ocular albinism, and juvenile-onset diabetes mellitus. Pediatr Dermatol 9:103-106
23. Russell-Eggitt I, Kriss A, Taylor DSI (1990) Albinism in childhood: a flash VEP and ERG study. Br J Ophthalmol 74: 136-140
24. Schiaffino MV, Bassi MT, Galli L, Renieri A, Bruttini M, De Nigris F, Bergen AAB, et al (1995) Analysis of the OA1 gene reveals mutations in only one-third of patients with X-linked ocular albinism. Hum Mol Genet 4:2319-2325
25. Schnur RE, Knowlton RG, Musarella MA, Muenke M, Nussbaum RL (1990) Partial deletions of a sequence family ("DXS278") and its physical linkage to steroid sulfatase as detected by pulsed field gel electrophoresis. Genomics 8: 255-262
26. Schnur RE, Nussbaum RL, Anson-Cartwright L, McDowell C, Worton RF, Musarella MA (1991) Linkage analysis in X-linked ocular albinism. Genomics 9:605-613
27. Schnur RE, Trask BJ, van den Engh G, Punnett HH, Kistenmacher M, Tomeo MA, Naids RE, et al (1989) An Xp22 microdeletion associated with ocular albinism and ichthyosis: approximation of breakpoints and estimation of deletion size by using cloned DNA probes and flow cytometry. Am J Hum Genet 45:706-720
28. Schnur RE, Wick PA, Bailey C, Rebbeck T, Weleber RG, Wagstaff J, Grix AW, et al (1994) Phenotypic variability in X-linked ocular albinism: relationship to linkage genotypes. Am J Hum Genet 55:484-496
29. Schnur RE, Wick PA, Sosnoski DN, Bick D, Nussbaum RL (1993) Deletion mapping and a highly reduced radiation hybrid in the Xp22.3-p22.2 region. Genomics 15:500-506