Diagnosis of Niemann-Pick disease type C with 7-ketocholesterol screening followed by NPC1/NPC2 gene mutation confirmation in Chinese patients

Orphanet Journal of Rare Diseases

Volumn 9, Issue 1, 2014, Pages

  Zhang, Huiwen ^a   Wang, Yu ^a   Lin, Na ^a   Yang, Rui ^a   Qiu, Wenjuan ^a   Han, Lianshu ^a   Ye, Jun ^a   Gu, Xuefan ^a  

^a SHANGHAI JIAO TONG UNIVERSITY   (China)

Author keywords

7 ketocholesterol; Niemann Pick type C; NPC1 gene; NPC2 gene

Indexed keywords

7 OXOCHOLESTEROL; ALANINE AMINOTRANSFERASE; ASPARTATE AMINOTRANSFERASE; DNA; MEMBRANE PROTEIN; NIEMANN PICK TYPE C1 PROTEIN; NIEMANN PICK TYPE C2 PROTEIN; UNCLASSIFIED DRUG;

ADOLESCENT; ADULT; ALLELE; ARTICLE; CHILD; CHINESE; CHOLESTASIS; DISABILITY; DNA DETERMINATION; GENE MUTATION; GENETIC SCREENING; HEPATOSPLENOMEGALY; HUMAN; INFANT; JAUNDICE; MAJOR CLINICAL STUDY; NIEMANN PICK DISEASE; POINT MUTATION; PSYCHOMOTOR RETARDATION; SPLENOMEGALY;

CARRIER PROTEINS; CHINA; FEMALE; GLYCOPROTEINS; HUMANS; INFANT; KETOCHOLESTEROLS; MALE; MEMBRANE GLYCOPROTEINS; MUTATION; NIEMANN-PICK DISEASE, TYPE C;

EID: 84902465591     PISSN: None     EISSN: 17501172     Source Type: Journal    
DOI: 10.1186/1750-1172-9-82     Document Type: Article

References (35)

1. Niemann-Pick C1 disease gene: homology to mediators of cholesterol homeostasis. 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 3rd, Ohno K, Zeigler M, Carmi R, Sokol J, Markie D, et al. Science 1997 277 228 231 10.1126/science.277.5323.228 9211849
2. Niemann-Pick disease type C. Vanier MT, Orphanet J Rare Dis 2010 5 16 10.1186/1750-1172-5-16 20525256
3. Identification of HE1 as the second gene of Niemann-Pick C disease. Naureckiene S, Sleat DE, Lackland H, Fensom A, Vanier MT, Wattiaux R, Jadot M, Lobel P, Science 2000 290 2298 2301 10.1126/science.290.5500.2298 11125141
4. Defective cholesterol trafficking in Niemann-Pick C-deficient cells. Peake KB, Vance JE, FEBS Lett 2010 584 2731 2739 10.1016/j.febslet.2010.04.047 20416299
5. Recommendations for the diagnosis and management of Niemann-Pick disease type C: an update. Patterson MC, Hendriksz CJ, Walterfang M, Sedel F, Vanier MT, Wijburg F, Mol Genet Metab 2012 106 330 344 10.1016/j.ymgme.2012.03.012 22572546
6. Niemann-Pick disease type C in neonatal cholestasis at a North American Center. Yerushalmi B, Sokol RJ, Narkewicz MR, Smith D, Ashmead JW, Wenger DA, J Pediatr Gastroenterol Nutr 2002 35 44 50 10.1097/00005176-200207000-00011 12142809
7. Genetic screening for Niemann-Pick disease type C in adults with neurological and psychiatric symptoms: findings from the ZOOM study. Bauer P, Balding DJ, Klunemann HH, Linden DE, Ory DS, Pineda M, Priller J, Sedel F, Muller A, Chadha-Boreham H, Welford RW, Strasser DS, Patterson MC, Hum Mol Genet 2013 22 4349 4356 10.1093/hmg/ddt284 23773996
8. Low ceruloplasmin in a patient with Niemann-Pick type C disease. Connemann BJ, Gahr M, Schmid M, Runz H, Freudenmann RW, J Clin Neurosci 2012 19 620 621 10.1016/j.jocn.2011.05.038 22269206
9. Misdiagnosis of Niemann-Pick disease type C as Gaucher disease. Lo SM, McNamara J, Seashore MR, Mistry PK, J Inherit Metab Dis 2010 33 Suppl 3 429 433 20549363
10. Disease and patient characteristics in NP-C patients: findings from an international disease registry. Patterson MC, Mengel E, Wijburg FA, Muller A, Schwierin B, Drevon H, Vanier MT, Pineda M, Orphanet J Rare Dis 2013 8 12 10.1186/1750-1172-8-12 23324478
11. Initiation and discontinuation of substrate inhibitor treatment in patients with Niemann-Pick type C disease. Perez-Poyato MS, Gordo MM, Marfa MP, Gene 2012 506 207 210 10.1016/j.gene.2012.06.054 22750297
12. Early miglustat therapy in infantile Niemann-Pick disease type C. Di Rocco M, Dardis A, Madeo A, Barone R, Fiumara A, Pediatr Neurol 2012 47 40 43 10.1016/j.pediatrneurol.2012.04.005 22704015
13. Niemann-Pick disease type C. Vanier MT, Millat G, Clin Genet 2003 64 269 281 10.1034/j.1399-0004.2003.00147.x 12974729
14. Niemann-Pick C disease: use of denaturing high performance liquid chromatography for the detection of NPC1 and NPC2 genetic variations and impact on management of patients and families. Millat G, Bailo N, Molinero S, Rodriguez C, Chikh K, Vanier MT, Mol Genet Metab 2005 86 220 232 10.1016/j.ymgme.2005.07. 007 16126423
15. Identification of 58 novel mutations in Niemann-Pick disease type C: correlation with biochemical phenotype and importance of PTC1-like domains in NPC1. Park WD, O'Brien JF, Lundquist PA, Kraft DL, Vockley CW, Karnes PS, Patterson MC, Snow K, Hum Mutat 2003 22 313 325 10.1002/humu.10255 12955717
16. The National Niemann-Pick C1 disease database: report of clinical features and health problems. Garver WS, Francis GA, Jelinek D, Shepherd G, Flynn J, Castro G, Walsh Vockley C, Coppock DL, Pettit KM, Heidenreich RA, Meaney FJ, Am J Med Genet A 2007 143A 1204 1211 10.1002/ajmg.a.31735 17497724
17. Genotype/phenotype of 6 Chinese cases with Niemann-Pick disease type C. Xiong H, Higaki K, Wei CJ, Bao XH, Zhang YH, Fu N, Qin J, Adachi K, Kumura Y, Ninomiya H, Nanba E, Wu XR, Gene 2012 498 332 335 10.1016/j.gene.2012.01.026 22326530
18. Six novel NPC1 mutations in Chinese patients with Niemann-Pick disease type C. Yang CC, Su YN, Chiou PC, Fietz MJ, Yu CL, Hwu WL, Lee MJ, J Neurol Neurosurg Psychiatry 2005 76 592 595 10.1136/jnnp.2004.046045 15774455
19. A sensitive and specific LC-MS/MS method for rapid diagnosis of Niemann-Pick C1 disease from human plasma. Jiang X, Sidhu R, Porter FD, Yanjanin NM, Speak AO, te Vruchte DT, Platt FM, Fujiwara H, Scherrer DE, Zhang J, Dietzen DJ, Schaffer JE, Ory DS, J Lipid Res 2011 52 1435 1445 10.1194/jlr.D015735 21518695
20. Cholesterol oxidation products are sensitive and specific blood-based biomarkers for Niemann-pick C1 disease. Porter FD, Scherrer DE, Lanier MH, Langmade SJ, Molugu V, Gale SE, Olzeski D, Sidhu R, Dietzen DJ, Fu R, Wassif CA, Yanjanin NM, Marso SP, House J, Vite C, Schaffer JE, Ory DS, Sci Transl Med 2010 2 56ra81 21048217
21. Determination of 7-ketocholesterol in plasma by LC-MS for rapid diagnosis of acid SMase-deficient Niemann-Pick disease. Lin N, Zhang H, Qiu W, Ye J, Han L, Wang Y, Gu X, J Lipid Res 2014 55 338 343 10.1194/jlr.D044024 24190732
22. Identification of a distinct mutation spectrum in the SMPD1 gene of Chinese patients with acid sphingomyelinase-deficient Niemann-Pick disease. Zhang H, Wang Y, Gong Z, Li X, Qiu W, Han L, Ye J, Gu X, Orphanet J Rare Dis 2013 8 15 10.1186/1750-1172-8-15 23356216
23. Type C Niemann-Pick disease: report of a Chinese case. Lyu RK, Ko YM, Hung IJ, Lu CS, J Formos Med Assoc 1993 92 829 831 7904866
24. Niemann-Pick disease type C: diagnosis and outcome in children, with particular reference to liver disease. Kelly DA, Portmann B, Mowat AP, Sherlock S, Lake BD, J Pediatr 1993 123 242 247 10.1016/S0022-3476(05)81695-6 7688422
25. Molecular analysis of NPC1 and NPC2 gene in 34 Niemann-Pick C Italian patients: identification and structural modeling of novel mutations. Fancello T, Dardis A, Rosano C, Tarugi P, Tappino B, Zampieri S, Pinotti E, Corsolini F, Fecarotta S, D'Amico A, Di Rocco M, Uziel G, Calandra S, Bembi B, Filocamo M, Neurogenetics 2009 10 229 239 10.1007/s10048-009-0175-3 19252935
26. Niemann-Pick disease type C: spectrum of HE1 mutations and genotype/phenotype correlations in the NPC2 group. Millat G, Chikh K, Naureckiene S, Sleat DE, Fensom AH, Higaki K, Elleder M, Lobel P, Vanier MT, Am J Hum Genet 2001 69 1013 1021 10.1086/324068 11567215
27. Niemann-Pick type C disease: mutations of NPC1 gene and evidence of abnormal expression of some mutant alleles in fibroblasts. Tarugi P, Ballarini G, Bembi B, Battisti C, Palmeri S, Panzani F, Di Leo E, Martini C, Federico A, Calandra S, J Lipid Res 2002 43 1908 1919 10.1194/jlr.M200203-JLR200 12401890
28. Mutations in NPC1 highlight a conserved NPC1-specific cysteine-rich domain. Greer WL, Dobson MJ, Girouard GS, Byers DM, Riddell DC, Neumann PE, Am J Hum Genet 1999 65 1252 1260 10.1086/302620 10521290
29. 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. Millat G, Marcais C, Tomasetto C, Chikh K, Fensom AH, Harzer K, Wenger DA, Ohno K, Vanier MT, Am J Hum Genet 2001 68 1373 1385 10.1086/320606 11333381
30. Characterisation of two deletions involving NPC1 and flanking genes in Niemann-Pick type C disease patients. Rodriguez-Pascau L, Toma C, Macias-Vidal J, Cozar M, Cormand B, Lykopoulou L, Coll MJ, Grinberg D, Vilageliu L, Mol Genet Metab 2012 107 716 720 10.1016/j.ymgme.2012.10.004 23142039
31. Development of a suspicion index to aid diagnosis of Niemann-Pick disease type C. Wijburg FA, Sedel F, Pineda M, Hendriksz CJ, Fahey M, Walterfang M, Patterson MC, Wraith JE, Kolb SA, Neurology 2012 78 1560 1567 10.1212/WNL.0b013e3182563b82 22517094
32. Clinical, electrophysiological, and serum biochemical measures of progressive neurological and hepatic dysfunction in feline Niemann-Pick type C disease. Vite CH, Ding W, Bryan C, O'Donnell P, Cullen K, Aleman D, Haskins ME, Van Winkle T, Pediatr Res 2008 64 544 549 10.1203/PDR.0b013e318184d2ce 18614965
33. Cholesterol accumulation and liver cell death in mice with Niemann-Pick type C disease. Beltroy EP, Richardson JA, Horton JD, Turley SD, Dietschy JM, Hepatology 2005 42 886 893 10.1002/hep.20868 16175610
34. Oxidative stress in NPC1 deficient cells: protective effect of allopregnanolone. Zampieri S, Mellon SH, Butters TD, Nevyjel M, Covey DF, Bembi B, Dardis A, J Cell Mol Med 2009 13 3786 3796 10.1111/j.1582-4934.2008.00493.x 18774957
35. Niemann-Pick C1 protects against atherosclerosis in mice via regulation of macrophage intracellular cholesterol trafficking. Zhang JR, Coleman T, Langmade SJ, Scherrer DE, Lane L, Lanier MH, Feng C, Sands MS, Schaffer JE, Semenkovich CF, Ory DS, J Clin Invest 2008 118 2281 2290 18483620