Analysis of the sphingomyelin phosphodiesterase 1 gene (SMPD1) in Turkish Niemann-Pick disease patients: Mutation profile and description of a novel mutation

Gene

Volumn 526, Issue 2, 2013, Pages 484-486

  Aykut, A ^a   Karaca, E ^a   Onay, H ^a   Kalkan Ucar, S ^a   Coker, M ^a   Cogulu, O ^a   Ozkinay, F ^a  

^a EGE UNIVERSITY SCHOOL OF MEDICINE   (Turkey)

Author keywords

Niemann Pick disease; Novel mutation; SMPD1 gene; Turkish population

Indexed keywords

ALLELE; AMINO ACID SUBSTITUTION; ARTICLE; CHILD; CLINICAL ARTICLE; FEMALE; FRAMESHIFT MUTATION; GENE; GENE DELETION; GENE MUTATION; GENETIC ANALYSIS; GENOTYPE PHENOTYPE CORRELATION; HETEROZYGOTE; HUMAN; INFANT; MALE; MISSENSE MUTATION; MUTATIONAL ANALYSIS; NIEMANN PICK DISEASE; PRESCHOOL CHILD; PRIORITY JOURNAL; SCHOOL CHILD; SPHINGOMYELIN PHOSPHODIESTERASE 1 GENE; STOP CODON; TURKEY (REPUBLIC);

ASM; HDL; HIGH DENSITY LIPOPROTEIN; MALDI-MS; MATRIX-ASSISTED LASER DESORPTION/IONIZATION (MALDI) MASS SPECTROMETRY; NIEMANN-PICK DISEASE; NOVEL MUTATION; NPD; PCR; POLYMERASE CHAIN REACTION; SMPD1; SMPD1 GENE; SPHINGOMYELIN PHOSPHODIESTERASE; SPHINGOMYELIN PHOSPHODIESTERASE GENE; TURKISH POPULATION;

AMINO ACID SUBSTITUTION; CHILD; CHILD, PRESCHOOL; CODON; EXONS; FEMALE; GENETIC ASSOCIATION STUDIES; HUMANS; INFANT; INFANT, NEWBORN; MALE; MUTATION; NIEMANN-PICK DISEASES; SPHINGOMYELIN PHOSPHODIESTERASE; TURKEY;

EID: 84880718544     PISSN: 03781119     EISSN: 18790038     Source Type: Journal    
DOI: 10.1016/j.gene.2013.03.116     Document Type: Article

References (16)

1. Dardis A., Zampieri S., Filocamo M., Burlina A., Bembi B., Pittis M.G. Functional in vitro characterization of 14 SMPD1 mutations identified in Italian patients affected by Niemann Pick Type B disease. Hum. Mutat. 2005, 26:164.
2. He X., Miranda S.R., Xiong X., Dagan A., Gatt S., Schuchman E.H. Characterization of human acid sphingomyelinase purified from the media of overexpressing Chinese hamster ovary cells. Biochim. Biophys. Acta 1999, 1432:251-264.
3. Ion G., et al. Acid sphingomyelinase mediated release of ceramide is essential to trigger the mitochondrial pathway of apoptosis by galectin-1. Cell. Signal. 2006, 18:1887-1896.
4. Lansmann S., et al. Human acid sphingomyelinase. Eur. J. Biochem. 2003, 270:1076-1088.
5. Lee C.Y., et al. Carboxyl-terminal disulfide bond of acid sphingomyelinase is critical for its secretion and enzymatic function. Biochemistry 2007, 46:14969-14978.
6. Levran O., Desnick R.J., Schuchman E.H. Niemann-Pick type B disease. Identification of a single codon deletion in the acid sphingomyelinase gene and genotype/phenotype correlations in type A and B patients. J. Clin. Invest. 1991, 88:806-810.
7. McGovern M.M., Schuchman E.H. Acid sphingomyelinase deficiency. GeneReviews [Internet] 2009, University of Washington, Seattle (WA), (1993-2006 Dec 07 [updated 2009 Jun 25]). R.A. Pagon, T.D. Bird, C.R. Dolan, K. Stephens (Eds.).
8. McGovern M.M., et al. A prospective, cross-sectional survey study of the natural history of Niemann-Pick disease type B. Pediatrics 2008, 122:e341-e349.
9. Pittis M.G., et al. Acid sphingomyelinase: identification of nine novel mutations among Italian Niemann Pick type B patients and characterization of in vivo functional in-frame start codon. Hum. Mutat. 2004, 24:186-187.
10. Ricci V., et al. Screening of 25 Italian patients with Niemann-Pick A reveals fourteen new mutations, one common and thirteen private, in SMPD1. Hum. Mutat. 2004, 24:105.
11. Rodriguez-Pascau L., Gort L., Schuchman E.H., Vilageliu L., Grinberg D., Chabas A. Identification and characterization of SMPD1 mutations causing Niemann-Pick types A and B in Spanish patients. Hum. Mutat. 2009, 30:1117-1122.
12. Schuchman E.H., Desnick R.J. Niemann-Pick disease types A and B: acid sphingomyelinase deficiencies. The Metabolic and Molecular 2001, Childs B, Kinzler KW, Vogelstein B, Assoc. C.R. Scriver, A.L. Beaudet, W.S. Sly, D. Valle (Eds.).
13. Schuchman E.H. The pathogenesis and treatment of acid sphingomyelinase-deficient Niemann-Pick disease. J. Inherit. Metab. Dis. 2007, 30:654-663.
14. Sikora J., Pavlu-Pereira H., Elleder M., Roelofs H., Wevers R.A. Seven novel acid sphingomyelinase gene mutations in Niemann-Pick type A and B patients. Ann. Hum. Genet. 2003, 67:63-70.
15. Simonaro C.M., Desnick R.J., McGovern M.M., Wasserstein M.P., Schuchman E.H. The demographics and distribution of type B Niemann-Pick disease: novel mutations lead to new genotype/phenotype correlations. Am. J. Hum. Genet. 2002, 71:1413-1419.
16. Wong M.L., et al. Acute systemic inflammation up-regulates secretory sphingomyelinase in vivo: a possible link between inflammatory cytokines and atherogenesis. Proc. Natl. Acad. Sci. U. S. A. 2000, 97:8681-8686.