Mutations of the P gene in oculocutaneous albinism, ocular albinism, and prader-willi syndrome plus albinism

New England Journal of Medicine

Volumn 330, Issue 8, 1994, Pages 529-534

  Lee, Seung Taek ^a   Nicholls, Robert D ^b   Bundey, Sarah ^c   Laxova, Renata ^a   Musarella, Maria ^d   Spritz, Richard A ^a  

^a UNIVERSITY OF WISCONSIN MADISON   (United States)

^b CASE WESTERN RESERVE UNIVERSITY SCHOOL OF MEDICINE   (United States)

^c UNIVERSITY OF BIRMINGHAM   (United Kingdom)

^d HOSPITAL FOR SICK CHILDREN   (Canada)

Author keywords

[No Author keywords available]

Indexed keywords

GLYCINE CLEAVAGE SYSTEM; MELANIN; MEMBRANE PROTEIN; MONOPHENOL MONOOXYGENASE;

ALBINISM; ARTICLE; AUTOSOMAL RECESSIVE INHERITANCE; CASE REPORT; CHILD; CHROMOSOME 15; CHROMOSOME DELETION; CHROMOSOME MAP; CLINICAL FEATURE; DNA SEQUENCE; ENZYME DEFICIENCY; EXON; FEMALE; GENE MUTATION; GENE SEGREGATION; GENETIC ANALYSIS; GENETIC SCREENING; HUMAN; MALE; OCULAR ALBINISM; OCULOCUTANEOUS ALBINISM; PRADER WILLI SYNDROME; PRIORITY JOURNAL;

ALBINISM; ALBINISM, OCULAR; ALBINISM, OCULOCUTANEOUS; AMINO ACID SEQUENCE; BASE SEQUENCE; CARRIER PROTEINS; CHILD; CHILD, PRESCHOOL; CODON; FEMALE; HUMANS; MALE; MEMBRANE PROTEINS; MEMBRANE TRANSPORT PROTEINS; MOLECULAR SEQUENCE DATA; MONOPHENOL MONOOXYGENASE; MUTATION; PEDIGREE; POLYMORPHISM, GENETIC; PRADER-WILLI SYNDROME;

EID: 0028014593     PISSN: 00284793     EISSN: 15334406     Source Type: Journal    
DOI: 10.1056/NEJM199402243300803     Document Type: Article

References (18)

1. Witkop CJ Jr Inherited disorders of pigmentation. Clin Dermatol 1985; 3: 70-134
2. Witkop CJ Jr, Quevedo WC Jr, Fitzpatrick TB, King RA. Albinism. In: Scriver CR, Beaudet AL, Sly WS, Valle D, eds. The metabolic basis of inherited disease. 6th ed. Vol. II. New York: McGraw-Hill, 1989:2905-47.
3. Spritz RA Molecular genetics of oculocutaneous albinism. Semin Dermatol 1993; 12: 167-172
4. Scialfa AC Ocular albinism in a female. Am J Ophthalmol 1972; 73: 943-948
5. O'Donnell FE Jr, King RA, Green WR, Witkop CJ Jr Autosomal recessively inherited ocular albinism: a new form of ocular albinism affecting females as severely as males. Arch Ophthalmol 1978; 96: 1621-1625
6. Rinchik EM, Bultman SJ, Horsthemke B, A gene for the mouse pink-eyed dilution locus and for human type II oculocutaneous albinism. Nature 1993; 361: 72-76
7. Gardner JM, Nakatsu Y, Gondo Y, The mouse pink-eyed dilution gene: association with human Prader-Willi and Angelman syndromes. Science 1992; 257: 1121-1124
8. Ludowese CJ, Thompson KJ, Sekhon GS, Pauli RM Absence of predictable phenotypic expression in proximal 15q duplications. Clin Genet 1991; 40: 194-201
9. Giebel LB, Strunk KM, Spritz RA Organization and nucleotide sequences of the human tyrosinase gene and a truncated tyrosinase-related segment. Genomics 1991; 9: 435-445
10. Saiki RK, Gelfand DH, Stoffel S, Primer-directed enzymatic amplification of DNA with a thermostable DNA polymerase. Science 1988; 239: 487-491
11. Spritz RA, Holmes SA, Ramesar R, Greenberg J, Curtis D, Beighton P Mutations of the KIT (mast/stem cell growth factor receptor) proto-oncogene account for a continuous range of phenotypes in human piebaldism. Am J Hum Genet 1992; 51: 1058-1065
12. Sanger F, Nicklen S, Coulson AR DNA sequencing with chain-terminating inhibitors. Proc Natl Acad Sci U S A 1977; 74: 5463-5467
13. Ott J Estimation of the recombination fraction in human pedigrees: efficient computation of the likelihood for human linkage studies. Am J Hum Genet 1974; 26: 588-597
14. Nicholls RD Genomic imprinting and uniparental disomy in Angelman and Prader-Willi syndromes: a review. Am J Med Genet 1993; 46: 16-25
15. Tantravahi U, Nicholls RD, Stroh H, Quantitative calibration and use of DNA probes for investigating chromosome abnormalities in the Prader-Willi syndrome. Am J Med Genet 1989; 33: 78-87
16. Ramsay M, Colman M-A, Stevens G, The tyrosinase-positive oculocutaneous albinism locus maps to chromosome 15q11.2-q12. Am J Hum Genet 1992; 51: 879-884
17. Rose NC, Menacker SJ, Schnur RE, Ocular albinism in a male with del (6)(q13-q15): candidate region for autosomal recessive ocular albinism? Am J Med Genet 1992; 42: 700-705
18. Butler MG Hypopigmentation: a common feature of the Prader-Labhart-Willi syndrome. Am J Hum Genet 1989; 45: 140-146