Four novel p.N385K, p.V36A, c.1033-1034insT and c.1417-1418delCT mutations in the sphingomyelin phosphodiesterase 1 (SMPD1) gene in patients with types A and B niemann-pick disease (NPD)

International Journal of Molecular Sciences

Volumn 16, Issue 4, 2015, Pages 6668-6676

  Manshadi, Masoumeh Dehghan ^a   Kamalidehghan, Behnam ^b   Keshavarzi, Fatemeh ^c   Aryani, Omid ^d   Dadgar, Sepideh ^d   Arastehkani, Ahoora ^a   Tondar, Mahdi ^e   Ahmadipour, Fatemeh ^b   Meng, Goh Yong ^f   Houshmand, Massoud ^d,g  

^a ISLAMIC AZAD UNIVERSITY   (Iran)

^b UNIVERSITY OF MALAYA   (Malaysia)

^c ISLAMIC AZAD UNIVERSITY   (Iran)

^d Special Medical Center Iran   (Iran)

^e GEORGETOWN UNIVERSITY SCHOOL OF MEDICINE   (United States)

^f UNIVERSITY PUTRA MALAYSIA   (Malaysia)

^g NATIONAL INSTITUTE OF GENETIC ENGINEERING AND BIOTECHNOLOGY   (Iran)

Author keywords

Acid sphingomyelinase (ASM); C.1033 1034insT and c.1417 1418delCT; P.G508R; P.N385K and p.V36A; Sphingomyelin phosphodiesterase 1 (SMPD1) gene; Types A and B niemann pick disease (NPD)

Indexed keywords

GENOMIC DNA; PRIMER DNA; SPHINGOMYELIN PHOSPHODIESTERASE; SPHINGOMYELIN PHOSPHODIESTERASE 1, HUMAN;

ARTICLE; AUTOSOMAL RECESSIVE DISORDER; BIOINFORMATICS; BLOOD SAMPLING; CLINICAL ARTICLE; CONTROLLED STUDY; DNA EXTRACTION; DNA SEQUENCE; EXON; GENE; GENE DELETION; GENE INSERTION; GENE MUTATION; HETEROZYGOSITY; HOMOZYGOSITY; HUMAN; LEUKOCYTE; MISSENSE MUTATION; NIEMANN PICK DISEASE; POLYMERASE CHAIN REACTION; PREDICTION; PROTEIN MODIFICATION; PROTEIN STABILITY; SPHINGOMYELIN PHOSPHODIESTERASE 1 GENE; CAUCASIAN; GENETIC ASSOCIATION; GENETICS; IRAN; MUTATION; PROCEDURES;

EUROPEAN CONTINENTAL ANCESTRY GROUP; GENETIC ASSOCIATION STUDIES; HUMANS; IRAN; MUTATION; NIEMANN-PICK DISEASE, TYPE A; NIEMANN-PICK DISEASE, TYPE B; SEQUENCE ANALYSIS, DNA; SPHINGOMYELIN PHOSPHODIESTERASE;

EID: 84925872815     PISSN: 16616596     EISSN: 14220067     Source Type: Journal    
DOI: 10.3390/ijms16046668     Document Type: Article

References (20)

1. McGovern, M.M.; Pohl-Worgall, T.; Deckelbaum, R.J.; Simpson, W.; Mendelson, D.; Desnick, R.J.; Schuchman, E.H.; Wasserstein, M.P. Lipid abnormalities in children with types A and B Niemann Pick disease. J. Pediatr. 2004, 145, 77-81.
2. McGovern, M.; Aron, A.; Brodie, S.; Desnick, R.; Wasserstein, M. Natural history of Type A Niemann-Pick disease Possible endpoints for therapeutic trials. Neurology 2006, 66, 228-232.
3. Schuchman, E. The pathogenesis and treatment of acid sphingomyelinase-deficient Niemann-Pick disease. J. Inherit. Metab. Dis. 2007, 30, 654-663.
4. Wasserstein, M.P.; Desnick, R.J.; Schuchman, E.H.; Hossain, S.; Wallenstein, S.; Lamm, C.; McGovern, M.M. The natural history of type B Niemann-Pick disease: results from a 10-year longitudinal study. Pediatrics 2004, 114, e672-e677.
5. Desnick, J.P.; Kim, J.; He, X.; Wasserstein, M.P.; Simonaro, C.M.; Schuchman, E.H. Identification and characterization of eight novel SMPD1 mutations causing types A and B Niemann-Pick disease. Mol. Med. 2010, 16, 316-321.
6. Baldi, B.G.; Santana, A.N. C.; Takagaki, T.Y.; Fujita, C.; Kairalla, R.A.; Carvalho, C.R.R. Lung cyst: An unusual manifestation of Niemann-Pick disease. Respirology 2009, 14, 134-136.
7. McGovern, M.; Wasserstein, M.; Giugliani, R.; Bembi, B.; Vanier, M.; Mengel, E. A prospective, cross-sectional survey study of the natural history of Niemann-Pick type B disease. Pediatrics 2009, 122, 341-349.
8. Hurwitz, R.; Ferlinz, K.; Vielhaber, G.; Moczall, H.; Sandhoff, K. Processing of human acid sphingomyelinase in normal and I-cell fibroblasts. J. Biol. Chem. 1994, 267, 5440-5445.
9. McGovern, M.M.; Schuchman, E.H. Acid sphingomyelinase deficiency. Available online: http://www.ncbi.nlm.nih.gov/books/NBK1370?(accessed on 25 January 2009).
10. Schuchman, E. The pathogenesis and treatment of acid sphingomyelinase-deficient Niemann-Pick disease. Int. J. Clin. Pharmacol. Ther. 2008, 47, S48-S57.
11. Brady, R.O.; Kanfer, J.N.; Mock, M.B.; Fredrickson, D.S. The metabolism of sphingomyelin. II. Evidence of an enzymatic deficiency in Niemann-Pick diseae. Proc. Natl. Acad. Sci. USA 1966, 55, 366-369.
12. Schneider, P.B.; Kennedy, E.P. Sphingomyelinase in normal human spleens and in spleens from subjects with Niemann-Pick disease. J. Lipid Res. 1967, 8, 202-209.
13. Kirkegaard, T.; Roth, A.G.; Petersen, N.H.T.; Mahalka, A.K.; Olsen, O.D.; Moilanen, I.; Zylicz, A.; Knudsen, J.; Sandhoff, K.; Arenz, C. Hsp70 stabilizes lysosomes and reverts Niemann-Pick disease-associated lysosomal pathology. Nature 2010, 463, 549-553.
14. Besley, G.; Hoogeboom, A.; Hoogeveen, A.; Kleijer, W.; Galjaard, H. Somatic cell hybridisation studies showing different gene mutations in Niemann-Pick variants. Hum. Genet. 1980, 54, 409-412.
15. Dardis, A.; Zampieri, S.; Filocamo, M.; Burlina, A.; Bembi, B.; Gabriela Pittis, M. Functional in vitro characterization of 14 SMPD1 mutations identified in Italian patients affected by Niemann Pick Type B disease. Hum. Mutat. 2005, 26, 164-164;.
16. Levran, O.; Desnick, R.; Schuchman, E. Identification and expression of a common missense mutation (L302P) in the acid sphingomyelinase gene of Ashkenazi Jewish type A Niemann-Pick disease patients. Blood 1992, 80, 2081-2087.
17. Ziegler, R.J.; Brown, C.; Barbon, C.M.; D’Angona, A.M.; Schuchman, E.H.; Andrews, L.; Thurberg, B.L.; McPherson, J.M.; Karey, K.P.; Cheng, S.H. Pulmonary delivery of recombinant acid sphingomyelinase improves clearance of lysosomal sphingomyelin from the lungs of a murine model of Niemann-Pick disease. Mol. Genet. Metab. 2009, 97, 35-42.
18. Müssig, K.; Harzer, K.; Mayrhofer, H.; Krägeloh-Mann, I.; Häring, H.U.; Machicao, F. Clinical findings in Niemann-Pick disease type B. Int. Med. J. 2006, 36, 135-136.
19. 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.
20. Gluck, I.; Zeigler, M.; Bargal, R.; Schiff, E.; Bach, G. Niemann Pick disease type A in Israeli Arabs: 677delT, a common novel single mutation. Hum. Mutat. 1999, 12, 136-136.