Identification of 58 novel mutations in Niemann-Pick disease type C: Correlation with biochemical phenotype and importance of PTC1-like domains in NPC1

Human Mutation

Volumn 22, Issue 4, 2003, Pages 313-325

  Park, Walter D ^a   O'Brien, John F ^a   Lundquist, Patrick A ^a   Kraft, Daniel L ^a   Vockley, Cate Walsh ^a   Karnes, Pamela S ^a   Patterson, Marc C ^b   Snow, Karen ^a  

^a MAYO CLINIC   (United States)

^b Columbia University ^*  (United States)

Author keywords

CSGE; HE1; Mutation analysis; Niemann Pick Type C; NPC1; NPC1 detection algorithm; NPC2

Indexed keywords

AMINO ACID; CHOLESTEROL; GENE PRODUCT; GLYCOLIPID; PROTEIN HE1; PROTEIN NPC1; PROTEIN NPC2; PROTEIN PATCHED 1; UNCLASSIFIED DRUG;

ALLELE; AMINO ACID SEQUENCE; ARTICLE; BIOCHEMISTRY; DISEASE SEVERITY; DNA SEQUENCE; GEL ELECTROPHORESIS; GENE MUTATION; GENETIC COMPLEMENTATION; HUMAN; HUMAN CELL; MISSENSE MUTATION; MUTATIONAL ANALYSIS; NIEMANN PICK DISEASE; NUCLEOTIDE SEQUENCE; PHENOTYPE; PRIORITY JOURNAL; PROTEIN CONFORMATION; PROTEIN DOMAIN; SEQUENCE ANALYSIS; SEQUENCE HOMOLOGY; UNITED STATES;

BASE SEQUENCE; CARRIER PROTEINS; CELL LINE; CHOLESTEROL ESTERS; DNA MUTATIONAL ANALYSIS; GENE FREQUENCY; GENETIC COMPLEMENTATION TEST; GENETIC SCREENING; GENOTYPE; GLYCOPROTEINS; HUMANS; MEMBRANE GLYCOPROTEINS; MOLECULAR SEQUENCE DATA; MUTATION; NIEMANN-PICK DISEASES; ONCOGENE PROTEINS; PHENOTYPE; POLYMORPHISM, GENETIC; PROTEIN STRUCTURE, TERTIARY;

EID: 0141753992     PISSN: 10597794     EISSN: None     Source Type: Journal    
DOI: 10.1002/humu.10255     Document Type: Article

References (42)

1. Antonarakis SE. 1998. Recommendations for a nomenclature system for human gene mutations. Nomenclature Working Group. Hum Mutat 11:1-3.
2. Aszterbaum M, Rothman A, Johnson RL, Fisher M, Xie J, Bonifas JM, Zhang X, Scott MP, Epstein EH, Jr. 1998. Identification of mutations in the human PATCHED gene in sporadic basal cell carcinomas and in patients with the basal cell nevus syndrome. J Invest Dermatol 110:885-888.
3. Bauer P, Knoblich R, Bauer C, Finckh U, Hufen A, Kropp J, Braun S, Kustermann-Kuhn B, Schmidt D, Harzer K, Rolfs A. 2002. NPC1: complete genomic sequence, mutation analysis, and characterization of haplotypes. Hum Mutat 19:30-38.
4. Blom TS, Linder MD, Snow K, Pihko H, Hess MW, Jokitalo E, Veckman V, Syvänen A, Ikonen E. 2003. Defective endocytic trafficking of NPC1 and NPC2 underlying infantile Niemann-Pick type C disease. Hum Mol Genet 12:257-272.
5. Brady RO, Kanfer JN, Mock MB, Frederickson DS. 1966. The metabolism of sphingomyelin. Evidence of an enzyme deficiency in Niemann-Pick disease. Proc Nat Acad of Sci 55:366-369.
6. Carstea ED, Morris JA, Coleman KG, Loftus SK, Zhang D, Cummings C, Gu J, Rosenfeld MA, Pavan WJ, Krizman DB, Nagle J, Polymeropoulos MH, Sturley SL, Ioannou YA, Higgins ME, Comly M, Cooney A, Brown A, Kaneski CR, Blanchette-Mackie EJ, Dwyer NK, Neufeld EB, Chang TY, Liscum L, Strauss JF, Ohno K, Zeigler M, Carmi R, Sokol J, Markie D, O'Neill RR, van Diggelon OP, Elleder M, Patterson MC, Brady RO, Vanier MT, Pentchev PG, Tagle DA. 1997. Niemann-Pick C1 disease gene: homology to mediators of cholesterol homeostasis. Science 277:228-231.
7. Crocker AC, Farber S. 1958. Niemann-Pick disease: a review of 18 patients. Medicine 37:1-95.
8. Davies JP, Levy B, Ioannou YA. 2000a. Evidence for a Niemann-pick C (NPC) gene family: identification and characterization of NPC1L1. Genomics 65:137-145.
9. Davies JP, Ioannou YA. 2000b. Topological analysis of Niemann-Pick C1 protein reveals that the membrane orientation of the putative sterol-sensing domain is identical to those of 3-hydroxy-3-methylglutaryl-CoA reductase and sterol regulatory element binding protein cleavage-activating protein. J Biol Chem 275:24367-24374.
10. Davies JP, Chen FW, Ioannou YA. 2000c. Transmembrane molecular pump activity of Niemann-Pick C1 protein. Science 290:2295-2298.
11. Dunnen JT, Antonarakis SE. 2000. Mutation nomenclature extensions and suggestions to describe complex mutations: a discussion. Hum Mutat 15:7-12.
12. Elleder M, Jirasek A. 1983. International symposium on Niemann-Pick disease. Eur J Pediatr 140:90.
13. Eng C, Vijg J. 1997. Genetic testing: the problems and the promise. Nat Biotechnol 15:422-426.
14. Ganguly A, Rock MJ, Prockop DJ. 1993. Conformation-sensitive gel electrophoresis for rapid detection of single-base differences in double-stranded PCR products and DNA fragments: evidence for solvent-induced bends in DNA heteroduplexes. Proc Natl Acad Sci 90:10325-10329.
15. Greer WL, Riddell DC, Gillan TL, Girouard GS, Sparrow SM, Byers DM, Dobson MJ, Neumann PE. 1998. The Nova Scotia (Type D) form of Niemann-Pick Disease is caused by a G3097T transversion in NPC1. Am J Hum Gen 63:52-54.
16. Greer WL, Donson MJ, Girouard GD, Byers DM, Riddell DC, Neumann PE. 1999. Mutations in NPC1 highlight a conserved NPC1-specific cysteine-rich domain. Am J Hum Genet 65:1252-1260.
17. Kaminski WE, Klünemann HH, Ibach B, Aslanidis C, Klein HE, Schmitz G. 2002. Identification of novel mutations in the NPC1 gene in German patients with Niemann-Pick C disease. J Inherit Metab Dis 25:385-389.
18. Kazazian HH Jr, Boehm CD, Seltzer WK. 2000. ACMG recommendations for standards for interpretation of sequence variations. Genet Med 2:302-303.
19. Kiesewetter S, Macek M Jr, Davis C, Curristin SM, Chu CS, Graham C, Shrimpton AE, Cashman SM, Tsui LC, Mickle J, Amos J, Highsmith WE, Shuber A, Witt DR, Crystal RG, Cutting GR. 1993. A mutation in CFTR produces different phenotypes depending on chromosomal background. Nat Genet 5:274-278.
20. Klünemann HH, Elleder M, Kaminski WE, Snow K, Peyser JM, O'Brien JF, Munoz D, Schmitz G, Klein HE, Pendlebury WW. 2002. Frontal lobe atrophy due to a mutation in the cholesterol binding protein HE1/NPC2. Ann Neurol 52:743-749.
21. Markoff A, Sormbroen H, Bogdanova N, Preisler-Adams S, Ganev V, Dwomiczak B, Horst J. 1998. Comparison of conformation-sensitive gel electrophoresis and single-strand conformation polymorphism analysis for detection of mutations in the BRCA1 gene using optimized conformation analysis protocols. Eur J Hum Genet 6:145-150.
22. Meiner V, Shpitzen S, Mandel H, Klar A, Ben-Neriah Z, Zlotogora J, Sagi M, Lossos A, Bargal R, Sury V, Carmi R, Leitersdorf E, Zeigler M. 2001. Clinical-biochemical correlation in molecularly characterized patients with Niemann-Pick type C. Genet Med 3:343-348.
23. Millat G, Marcais C, Rafi MA, Yamamoto T, Morris JA, Pentchev PG, Ohno K, Wenger DA, Vanier MT 1999. Niemann-Pick C1 disease: the I1061T substitution is a frequent mutant allele in patients of Western European descent and correlates with a classic juvenile phenotype. Am J Hum Genet 65:1321-1329.
24. Millat G, Marcais C, Tomasetto C, Chikh K, Fensom AH, Harzer K, Wenger DA, Ohno K, Vanier MT 2001a. Niemann-Pick C1 disease: correlations between NPC1 mutations, levels of NPC1 protein, and phenotypes emphasize the functional significance of the putative sterol-sensing domain and of the cysteine-rich luminal loop. Am J Hum Genet 68:1373-1385.
25. Millat G, Chikh K, Naureckiene S, Sleat DE, Fensom AH, Higaki K, Elleder M, Lobel P, Vanier MT. 2001b. Niemann-Pick disease type C: spectrum of HE1 mutations and genotype/phenotype correlations in the NPC2 group. Am J Hum Genet 69:1013-1021.
26. Morris JA, Zhang D, Coleman KG, Nagle J, Pentchev PG, Carstea ED. 1999. The genomic organization and polymorphism analysis of the human Niemann-Pick C1 gene. Biochem Biophys Res Commun 261:493-498.
27. Naureckiene S, Sleat DE, Lackland H, Fensom A, Vanier MT, Rattiaux R, Jadot M, Lobel P. 2000. Identification of HE1 as the second gene in Niemann-Pick C disease. Science 290:2298-2301.
28. Newton CR, Graham A, Heptinstall LE, Powell SJ, Summers C, Kalsheker N, Smith JC, Markham AF. 1989. Analysis of any point mutation in NA The amplification refractory mutation system (ARMS). Nuc Acid Res 17:2503-2515.
29. Nollau P, Wagener C. 1997. Methods for detection of point mutations: performance and quality assessment. Clin Chem 43:1114-1128.
30. Park W, Price-Troska T, Butz M, Parc Y, Thibodeau S, Snow K. 2000. Multiplex CSGE: a universal mutation screening method. J Molec Diagnostics 2:221.
31. Patterson MC, Vanier MT, Suzuki K, Morris JA, Carstea ED, Neufeld EB, Blanchette-Mackie EJ, Pentchev PG. 2001. Niemann-Pick Type C: a lipid trafficking disorder. In: Scriver CR, Beaudet AI, Sly WS, Valle D, Childs B, Kinzler KW, Vogelstein B, editors. The metabolic and molecular bases of inherited disease, 8th ed. New York: McGraw Hill. p 3611-3634.
32. Pentchev PG, Comly ME, Kruth HS, Patel S, Proestel M, Weintraub H. 1986. The cholesterol storage disorder of the mutant BALB/c mouse. A primary genetic lesion closely linked to defective esterification of exogenously derived cholesterol and its relationship to human type C Niemann-Pick disease. J Biol Chem 261:2772-2777.
33. Ribeiro I, Marcao A, Amaral O, Sa Miranda MC, Vanier MT, Millat G. 2001. Niemann-Pick type C disease: NPC1 mutations associated with severe and mild cellular cholesterol trafficking alterations. Hum Genet 109:24-32.
34. Sun X, Marks DL, Park WD, Wheatley CL, Puri V, O'Brien JF, Kraft DL, Lundquist PA, Patterson MC, Pagano RE and Snow K. 2001. Niemann-Pick C variant detection by altered sphingolipid trafficking and correlation with mutations within a specific domain of NPC1. Am J Hum Genet 68:1361-1372.
35. Tarugi P, Ballarini G, Bembi B, Battisti C, Palmeri S, Panzani F, Di Leo E, Martini C, Federico A, Calandra S. 2002. Niemann-Pick type C disease: mutations of NPC1 gene and evidence of abnormal expression of some mutant alleles in fibroblasts. J Lipid Res 43:1908-1919.
36. Thomas GH, Tuck-Muller CM, Miller CS, Reynolds LW. 1989. Correction of sphingomyelinase deficiency in Niemann-Pick type C fibroblasts by removal of lipoprotein fraction from culture media. J Inherit Metab Dis 12:139-151.
37. Vanier MT, Duthel S, Rodriquez-Lafrasse C, Pentchev P, Carstea ED. 1996. Genetic heterogeneity in Niemann-Pick C disease: a study using somatic cell hybridization and linkage analysis. Am J Hum Genet 58:118-125.
38. Vanier MT, Suzuki K. 1998. Recent advances in elucidating Niemann-Pick C disease. Brain Pathol 8:163-174.
39. Watari H, Blanchette-Mackie EJ, Dwyer NK, Watari M, Burd CG, Patel S, Pentchev PG, Strauss JF, III. 2000. Determinants of NPC1 expression and action: key promoter regions, posttranscriptional control, and the importance of a "cysteine-rich" loop. Exp Cell Res 259:247-256.
40. Wenger DA, Barth G, Githens JH. 1977. Nine cases of sphingomyelin lipidosis, a new variant in Spanish-American Children. Juvenile variant of Niemann-Pick Disease with foamy and sea-blue histiocytes. Am J Dis Child 131:955-961.
41. Yamamoto T, Nanba E, Ninomiya H, Higaki K, Taniguchi M, Zhang H, Akaboshi S, Watanabe Y, Takeshima T, Inui K, Okada S, Tanaka A, Sakuragawa N, Millat G, Vanier MT, Morris JA, Pentchev PG, Ohno K. 1999. NPC1 gene mutations in Japanese patients with Niemann-Pick disease type C. Hum Genet 105:10-16.
42. Yamamoto T, Ninomiya H, Matsumoto M, Ohta Y, Nanba E, Tsutsumi Y, Yamakawa K, Millat G, Vanier MT, Pentchev PG, Ohno K. 2000. Genotype-phenotype relationship of Niemann-Pick disease type C: a possible correlation between clinical onset and levels of NPC1 protein in isolated skin fibroblasts. J Med Genet 37:707-711.