Mutation analysis of patients with Hermansky-Pudlak syndrome: A frameshift hot spot in the HPS gene and apparent locus heterogeneity

American Journal of Human Genetics

Volumn 62, Issue 3, 1998, Pages 593-598

  Oh, Jangsuk ^a   Ho, Lingling ^a   Ala Mello, Sirpa ^c   Amato, Dominick ^d   Armstrong, Linda ^f   Bellucci, Sylvia ^g   Carakushansky, Gerson ^h   Ellis, Julia P ⁱ   Fong, Chin To ^j   Green, Jane S ^k   Heon, Elise ^e   Legius, Eric ^l   Levin, Alex V ^e   Nieuwenhuis, H Karel ^m   Pinckers, A ⁿ   Tamura, Naoaki ^o   Whiteford, Margo L ^p   Yamasaki, Hisato ^q   Spritz, Richard A ^a,b  

^a UNIVERSITY OF WISCONSIN MADISON   (United States)

^b UNIVERSITY OF WISCONSIN SCHOOL OF MEDICINE AND PUBLIC HEALTH   (United States)

^c HELSINKI UNIVERSITY CENTRAL HOSPITAL   (Finland)

^d MOUNT SINAI HOSPITAL   (Canada)

^e HOSPITAL FOR SICK CHILDREN   (Canada)

^f NEW YORK UNIVERSITY MEDICAL CENTER   (United States)

^g HÔPITAL LARIBOISIÈRE   (France)

^h FEDERAL UNIVERSITY OF RIO DE JANEIRO   (Brazil)

ⁱ PRINCESS MARGARET HOSPITAL   (United Kingdom)

^j UNIVERSITY OF ROCHESTER MEDICAL CENTER   (United States)

^k MEMORIAL UNIVERSITY OF NEWFOUNDLAND   (Canada)

^l UNIVERSITY HOSPITALS LEUVEN   (Belgium)

^m UNIVERSITY MEDICAL CENTER UTRECHT   (Netherlands)

ⁿ RADBOUD UNIVERSITY NIJMEGEN   (Netherlands)

^o JUNTENDO UNIVERSITY SCHOOL OF MEDICINE   (Japan)

^p UNIVERSITY OF GLASGOW   (United Kingdom)

^q KUMAMOTO UNIV SCHOOL OF MEDICINE   (Japan)

more..

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CHROMOSOME 10Q; FOUNDER EFFECT; FRAMESHIFT MUTATION; GENE DELETION; HUMAN; MAJOR CLINICAL STUDY; NONSENSE MUTATION; OCULAR ALBINISM; PRIORITY JOURNAL;

EID: 17344369131     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1086/301757     Document Type: Article

References (22)

1. Bailin T, Oh J, Feng GH, Fukai K, Spritz RA (1997) Organization and nucleotide sequence of the human Hermansky-Pudlak syndrome (HPS) gene. J Invest Dermatol 108: 923-927
2. Bennett DC (1993) Genetics, development, and malignancy of melanocytes. Int Rev Cytol 146:191-260
3. Cheng T, Orkin SH, Antonarakis SE, Potter MJ, Sexton JP, Markham AF, Giardina PJ, et al (1984) β-Thalassemia in Chinese: use of in vivo RNA analysis and oligonucleotide hybridization in systematic characterization of molecular defects. Proc Natl Acad Sci USA 81:2812-2825
4. Dracopoli NC, Haines JL, Korf BR, Moir DT, Morton CC, Seidman CE, Seidman JG, et al (eds) (1994) Current protocols in human genetics. Vol 1. John Wiley & Sons, New York, 2.5.1-2.5.4
5. Ellis JP, Gray A, Richards F (1995) Oculocutaneous albinism and bruising in two sisters - probably Hermansky-Pudlak syndrome. J R Soc Med 88:293P-294P
6. Feng GH, Bailin T, Oh J, Spritz RA (1997) Mouse pale ear (ep) is homologous to Hermansky-Pudlak syndrome. Hum Mol Genet 6:793-797
7. Fukai K, Oh J, Frenk E, Almodovar C, Spritz RA (1995) Linkage disequilibrium mapping of the gene for Hermansky-Pudlak syndrome to chromosome 10q23.1-q23.3. Hum Mol Genet 4:1665-1669
8. Gardner JM, Wildenberg SC, Keiper NM, Novak EK, Rusiniak ME, Swank RT, Puri N, et al (1997) The mouse pale ear (ep) mutation is the homologue of human Hermansky-Pudlak syndrome. Proc Natl Acad Sci USA 94:9238-9243
9. Gerritsen SM, Akkerman JWN, Nijmeijer B, Sixma JJ, Witkop CJ, White J (1977) The Hermansky-Pudlak syndrome: evidence for a lowered 5-hydroxytryptamine content in platelets of heterozygotes. Scand J Haematol 18:249-256
10. Hazelwood S, Shotelersuk V, Wildenberg SC, Chen D, Iwata F, Kaiser-Kupfer MI, White JG, et al (1997) Evidence for locus heterogeneity in Puerto Ricans with Hermansky-Pudlak syndrome. Am J Hum Genet 61:1088-1094
11. Hermansky F, Pudlak P (1959) Albinism associated with hemorrhagic diathesis and unusual pigmented reticular cells in the bone marrow: report of two cases with histochemical studies. Blood 14:162-169
12. Highsmith WE, Strong T, Burch N, Smith T, Silverman LM, Collins FS, Boucher R, et al (1990) Identification of a splice error of exon 14b giving rise to a frameshift mutation in a consanguineous family with mild cystic fibrosis. Pediatr Pulmonol Suppl 5:11A
13. Lattion F, Schneider P, Da Prada M, Lorez HP, Richards JG, Picotti GB, Frenk E (1983) Syndrome d'Hermansky-Pudlak dans un village valaisan. Helv Paediatr Acta 38:495-512
14. Lee ST, Park SK, Lee KH, Holmes SA, Spritz RA (1995) A non-radioactive method for simultaneous detection of single strand conformation polymorphism (SSCPs) and heteroduplexes. Mol Cells 5:668-672
15. O'Brien EP, Novak EK, Keller SA, Poirer C, Guénet J-L (1994) Molecular map of chromosome 19 including 3 genes affecting bleeding time: ep, ru, and bm. Mamm Genome 5: 356-360
16. Oh J, Bailin T, Fukai K, Feng GH, Ho L, Mao J, Frenk E, et al (1996) Positional cloning of a gene for Hermansky-Pudlak syndrome, a disorder of cytoplasmic organelles. Nat Genet 14:300-306
17. Schallreuter KU, Frenk E, Wolfe LS, Witkop CJ, Wood JM (1993) Hermansky-Pudlak Syndrome in a Swiss population. Dermatology 187:248-256
18. Shapiro MB, Senepathy P (1987) RNA splice junctions of different classes of eukaryotes: sequence statistics and functional implications in gene expression. Nucleic Acids Res 15:7155-7175
19. Treisman R, Orkin SH, Maniatis T (1983) Specific transcription and RNA splicing defects in five cloned β-thalassemia genes. Nature 302:591-596
20. Wildenberg SC, Oetting WS, Almodovar C, Krumwiede M, White JG, King RA (1995) A gene causing Hermansky-Pudlak syndrome in a Puerto Rican population maps to chromosome 10q2. Am J Hum Genet 57:755-765
21. Witkop CJ, Babcock MN, Rao GHR, Gaudier F, Sommers CG, Shanahan F, Harmon KR, et al (1990) Albinism and Hermansky-Pudlak syndrome in Puerto Rico. Bol Assoc Med P R 82:333-339
22. Zielenski J, Markiewicz D, Lin SP, Huang FY, Yang-Feng TL, Tsui LC (1995) Skipping of exon 12 as a consequence of a point mutation (1985+5G-→T) in the cystic fibrosis transmembrane conductance regulator gene found in a consanguineous Chinese family. Clin Genet 47:125-132