Molecular analysis of 30 Niemann-Pick type C patients from Spain

Clinical Genetics

Volumn 80, Issue 1, 2011, Pages 39-49

  Macias Vidal J ^a,b   Rodriguez Pascau L ^b,c   Sanchez Olle G ^b,c   Lluch, M ^a,b   Vilageliu, L ^b,c   Grinberg, D ^b,c   Coll, Mj ^a,b  

^a HOSPITAL CLÍNIC   (Spain)

^b CENTRO DE INVESTIGACIÓN BIOMÉDICA EN RED DE ENFERMEDADES RARAS CIBERER   (Spain)

^c UNIVERSITY OF BARCELONA   (Spain)

Author keywords

Large deletion; Lysosomal storage disorder; Niemann; NPC1 gene; Pick type C disease; Splice site mutations

Indexed keywords

COMPLEMENTARY DNA; GENOMIC DNA; MESSENGER RNA; NIEMANN PICK DISEASE TYPE C 1 PROTEIN; NIEMANN PICK DISEASE TYPE C 2 PROTEIN; PROTEIN; UNCLASSIFIED DRUG;

ADULT; AMINO ACID SUBSTITUTION; ARTICLE; CLINICAL ARTICLE; CONTROLLED STUDY; GENE DELETION; GENE INSERTION; GENETIC SCREENING; GENETIC VARIABILITY; GENOTYPE PHENOTYPE CORRELATION; HOMOZYGOSITY; HOMOZYGOTE; HUMAN; INTRON; MUTATIONAL ANALYSIS; NIEMANN PICK DISEASE; NONSENSE MEDIATED MRNA DECAY; NONSENSE MUTATION; NUCLEOTIDE SEQUENCE; ONSET AGE; PHENOTYPE; PRIORITY JOURNAL; REAL TIME POLYMERASE CHAIN REACTION; RNA DEGRADATION; RNA SPLICING; SINGLE NUCLEOTIDE POLYMORPHISM; SPAIN;

ADOLESCENT; ALLELES; AMINO ACID SUBSTITUTION; CARRIER PROTEINS; CHILD; CHILD, PRESCHOOL; CODON, NONSENSE; FEMALE; GENE DELETION; GENETIC ASSOCIATION STUDIES; HUMANS; INFANT; INFANT, NEWBORN; MALE; MEMBRANE GLYCOPROTEINS; NIEMANN-PICK DISEASE, TYPE C; RNA SPLICE SITES; SEQUENCE DELETION; SPAIN; YOUNG ADULT;

EID: 79958166172     PISSN: 00099163     EISSN: 13990004     Source Type: Journal    
DOI: 10.1111/j.1399-0004.2010.01504.x     Document Type: Article

References (32)

1. Patterson MC, Vanier MT, Suzuki K et al. Niemann-Pick disease type C: a lipid trafficking disorder. In: Scriver CR, Beaudet AL, Sly WS, eds. The metabolic and molecular bases of inherited disease, 8th edn. New York: McGraw-Hill, 2001: 3611-3633.
2. Vanier MT, Suzuki K. Niemann-Pick diseases. In: Moser HW, ed. Neurodystrophies and neurolipidoses: handbook of clinical neurology, Vol. 66. Amsterdam: Elsevier Science, 1996: 133-162.
3. Vanier MT, Duthel S, Rodriguez-Lafrasse C et al. Genetic heterogeneity in Niemann-Pick C disease: a study using somatic cell hybridization and linkage analysis. Am J Hum Genet 1996: 58: 118-125.
4. Carstea ED, Morris JA, Coleman KG et al. Niemann-Pick C1 disease gene: homology to mediators of cholesterol homeostasis. Science 1997: 277: 228-231.
5. Naureckiene S, Sleat DE, Lackland H et al. Identification of HE1 as the second gene of Niemann-Pick C disease. Science 2000: 290: 2298-2301.
6. Zhang M, Sun M, Dwyer NK et al. Differential trafficking of the Niemann-Pick C1 and 2 proteins highlights distinct roles in late endocytic lipid trafficking. Acta Paediatr Suppl 2003: 92: 63-73.
7. Infante RE, Wang ML, Radhakrishnan A et al. NPC2 facilitates bidirectional transfer of cholesterol between NPC1 and lipid bilayers, a step in cholesterol egress from lysosomes. Proc Natl Acad Sci U S A 2008: 105: 15287-15292.
8. Subramanian K, Balch WE. NPC1/NPC2 function as a tag team duo to mobilize cholesterol. Proc Natl Acad Sci U S A 2008: 105: 15223-15224.
9. Storch J, Xu Z. Niemann-Pick C2 (NPC2) and intracellular cholesterol trafficking. Biochim Biophys Acta 2009: 1791: 671-678.
10. Fernández-Valero EM, Ballart A, Iturriaga C et al. Identification of 25 new mutations in 40 unrelated Spanish Niemann-Pick type C patients: genotype-phenotype correlations. Clin Genet 2005: 68: 245-254.
11. Vanier MT, Rodriguez-Lafrasse C, Rousson R et al. Type C Niemann-Pick disease: spectrum of phenotypic variation in disruption of intracellular LDL-derived cholesterol processing. Biochim Biophys Acta 1991: 1096: 328-337.
12. Iturriaga C, Pineda M, Fernández-Valero EM et al. Niemann-Pick C disease in Spain: clinical spectrum and development of a disability scale. J Neurol Sci 2006: 249: 1-6.
13. Maquat LE. When cells stop making sense: effects of nonsense codons on RNA metabolism in vertebrate cells. RNA 1995: 1: 453-465.
14. Macías-Vidal J, Gort L, Lluch M et al. Nonsense-mediated mRNA decay process in nine alleles of Niemann-Pick type C patients from Spain. Mol Genet Metab 2009: 97: 60-64.
15. Tarugi P, Ballarini G, Bembi B et al. Niemann-Pick type C disease: mutations of NPC1 gene and evidence of abnormal expression of some mutant alleles in fibroblasts. J Lipid Res 2002: 43: 1908-1919.
16. Millat G, Chikh K, Naureckiene S et al. Niemann-Pick disease type C: spectrum of HE1 mutations and genotype/ phenotype correlations in the NPC2 group. Am J Hum Genet 2001: 69: 1013-1021.
17. den Dunnen JT, Antonarakis SE. Mutation nomenclature extensions and suggestions to describe complex mutations: a discussion. Hum Mutat 2000: 15: 7-12.
18. Ribeiro I, Marcão A, Amaral O et al. Niemann-Pick type C disease: NPC1 mutations associated with severe and mild cellular cholesterol trafficking alterations. Hum Genet 2001: 109: 24-32.
19. Greer WL, Dobson MJ, Girouard GS et al. Mutations in NPC1 highlight a conserved NPC1-specific cysteine-rich domain. Am J Hum Genet 1999: 65: 1252-1260.
20. Millat G, BaÏlo N, Molinero S et al. 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. Mol Genet Metab 2005: 86: 220-232.
21. Millat G, Marçais C, Tomasetto C et al. 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 2001: 68: 1373-1385.
22. Yamamoto T, Nanba E, Ninomiya H et al. NPC1 gene mutations in Japanese patients with Niemann-Pick disease type C. Hum Genet 1999: 105: 10-16.
23. Millat G, Marçais C, Rafi MA et al. 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 1999: 65: 1321-1329.
24. Rodríguez-Pascau L, Coll MJ, Vilageliu L et al. Antisense oligonucleotide treatment for a pseudoexon-generating mutation in the NPC1 gene causing Niemann-Pick type C disease. Hum Mutat 2009: 30: E993-E1001.
25. Park WD, O'Brien JF, Lundquist PA et al. Identification of 58 novel mutations in Niemann-Pick disease type C: correlation with biochemical phenotype and importance of PTC1-like domains in NPC1. Hum Mutat 2003: 22: 313-325.
26. Garver WS, Jelinek D, Meaney FJ et al. The national Niemann-Pick type C1 disease database: correlation of lipid profiles, mutations, and biochemical phenotypes. J Lipid Res 2010: 51: 406-415.
27. Vanier MT, Millat G. Niemann-Pick disease type C. Clin Genet 2003: 64: 269-281.
28. Vega AI, Pérez-Cerdá C, Desviat LR et al. Functional analysis of three splicing mutations identified in the PMM2 gene: toward a new therapy for congenital disorder of glycosilation type IA. Hum Mutat 2009: 30: 795-803.
29. Imrie J, Dasgupta S, Besley GTN et al. The natural history of Niemann-Pick disease type C in the UK. J Inherit Metab Dis 2007: 30: 51-59.
30. Fancello T, Dardis A, Rosano C et al. Molecular analysis of NPC1 and NPC2 gene in 34 Niemann-Pick C Italian Patients: identification and structural modeling of novel mutations. Neurogenetics 2009: 10: 229-239.
31. Inacio A, Silva AL, Pinto J et al. Nonsense mutations in close proximity to the initiation codon fail to trigger full nonsense-mediated mRNA decay. J Biol Chem 2004: 279: 32170-32180.
32. Di Leo E, Panico F, Tarugi P et al. A point mutation in the lariat branch point of intron 6 of NPC1 as the cause of abnormal pre-mRNA splicing in Niemann-Pick type C disease. Hum Mutat 2004: 24: 440.