Niemann-Pick disease: Mutation update, genotype/phenotype correlations, and prospects for genetic testing

Genetic Testing

Volumn 1, Issue 1, 1997, Pages 13-19

  Schuchman, Edward H ^a   Miranda, Silvia R P ^a  

^a MOUNT SINAI SCHOOL OF MEDICINE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

PRIMER DNA;

FEMALE; GENE FREQUENCY; GENETIC SCREENING; GENETICS; GENOTYPE; HETEROZYGOTE DETECTION; HUMAN; JEW; MALE; MUTATION; NIEMANN PICK DISEASE; NUCLEOTIDE SEQUENCE; PHENOTYPE; PREGNANCY; PRENATAL DIAGNOSIS; REVIEW;

BASE SEQUENCE; DNA PRIMERS; FEMALE; GENE FREQUENCY; GENETIC SCREENING; GENOTYPE; HETEROZYGOTE DETECTION; HUMANS; JEWS; MALE; MUTATION; NIEMANN-PICK DISEASES; PHENOTYPE; PREGNANCY; PRENATAL DIAGNOSIS;

EID: 0031291717     PISSN: 10906576     EISSN: None     Source Type: Journal    
DOI: 10.1089/gte.1997.1.13     Document Type: Review

References (34)

1. BESLEY, G.T.N., and MOSS, S.E. (1983). Studies of sphingomyelinase and β-glucosidase activities in Niemann-Pick disease variants. Phosphodiesterase activities measured with natural and artificial substrates. Biochim. Biophys. Acta 752, 54-64.
2. BRADY, R.O., KANFER, J.N., MOCK, M.B., and FREDRICKSON, D.S. (1966). The metabolism of sphingomyelin. II: Evidence of an enzymatic deficiency in Niemann-Pick disease. Proc. Natl. Acad. Sci. USA 55, 366-369.
3. BRADY, R.O. (1983). Sphingomyelin lipidosis: Niemann-Pick disease. The Metabolic Basis of Inherited Disease Stanbury, J.B., Wyngaarden, J.B., Fredrickson, D.S., Goldstein, J.L., Brown, M.S. eds. (McGraw-Hill, New York) pp. 831-841.
4. CAGGANA, M., ENG, C.M., DESNICK, R.J., and SCHUCHMAN, E.H. (1994). Molecular population studies of Niemann-Pick disease Type A. Amer. J. Hum. Genet. 55, A147 (suppl.).
5. CHAZAN, S., ZITMAN, D., and KLIBANSKY, C. (1978). Prenatal diagnosis of Gaucher's and Niemann-Pick diseases: Assays of glucocerebrosidase and sphingomyelinase in tissue cultures using natural substrates. Clin. Chim. Acta 86, 45-49.
6. DUSENDSCHON, A. (1946). Deux cas familiaux de maladie de Niemann-Pick chez adulte. These, Faculte de Medicine, Geneva.
7. FERLINZ, K., HURWITZ, R., and SANDHOFF, K. (1991). Molecular basis of acid sphingomyelinase deficiency in a patient with Niemann-Pick disease Type A. Biochem. Biophys. Res. Commun. 174, 1187-1191.
8. FERLINZ, K., HURWITZ, R., WEILER, M., SUZUKI, K., SANDHOFF, K., and VANIER, M.T. (1995). Molecular analysis of the acid sphingomyelinase deficiency in a family with an intermediate form of Niemann-Pick disease. Am. J. Hum. Gen. 56, 1343-1349.
9. FREDRICKSON, D.S., and SLOAN, H.R. (1972). Sphingomyelin lipidoses: Niemann-Pick disease. The Metabolic Basis of Inherited Disease. Stanbury, J.B., Wyngaarden, J.B., Fredrickson, D.S. eds. (McGraw-Hill, New York) pp. 783-807.
10. GATT, S., DINUR, T., and BARENHOLZ, Y. (1980). A fluorimetric determination of sphingomyelinase by use of fluorescent derivatives of sphingomyelin, and its application to diagnosis of Niemann-Pick disease. Clin. Chem. 26, 93-96.
11. GOODMAN, R.M. (1979). Genetic disorders among the Jewish People. Johns Hopkins University Press, Baltimore, pp. 96-100.
12. HORINOUCHI, K., ERLICH, S., PERL, D.P., FERLINZ, K., BISGAIER, C.L., SANDHOFF, K., DESNICK, R.J., STEWART, C.L., and SCHUCHMAN, E.H. (1995). Acid sphingomyelinase deficient mice: A model of types A and B Niemann-Pick disease. Nat. Genet. 10, 288-293.
13. IDA, H., RENNERT, O.M., MAEKAWA, K., and ETO, Y. (1996). Identification of three novel mutations in the acid sphingomyelinase gene of Japanese patients with Niemann-Pick disease type A and B. Hum. Mutat. 7, 65-67.
14. LEVRAN, O., DESNICK, R.J., and SCHUCHMAN, E.H. (1991a). Niemann-Pick disease: A frequent mutation in the acid sphingomyelinase of Ashkenazi Jewish type A and B patients. Proc. Natl. Acad. Sci. USA 88, 748-3752.
15. LEVRAN, O., DESNICK, R.J., and SCHUCHMAN, E.H. (1991b). 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. 88, 806-810.
16. LEVRAN, O., DESNICK, R.J., and SCHUCHMAN, E.H. (1992). Identification and expression of a common missense mutation (L302P) in the acid sphingomyelinase gene of Ashkenazi Jewish type A Niemann-Pick disease patients. Blood 80, 2081-2087.
17. LEVRAN, O., DESNICK, R.J., and SCHUCHMAN, E.H. (1993a). Type A Niemann-Pick disease: A frameshift mutation in the acid sphingomyelinase gene (fsP330) occurs in Ashkenazi Jewish patients. Hum. Mut. 2, 317-319.
18. LEVRAN, O., DESNICK, R.J., and SCHUCHMAN, E.H. (1993b). Identification of a 3′ acceptor splice site mutation (g2610c) in the acid sphingomyelinase gene of patients with types A and B Niemann-Pick disease. Hum. Mol. Genet. 2, 205-206.
19. NIEMANN, A. (1914). Ein unbekanntes Krankheitsbild. Jahrb. f. Kinderheikd. 79, 1-10.
20. OTTERBACH, B., and STOFFEL, W. (1995). Acid sphingomyelinase-deficient mice mimic the neurovisceral form of human lysosomal storage disease (Niemann-Pick disease). Cell 81, 1053-1061.
21. PEREIRA, L.V., DESNICK, R.J., ADLER, D., DISTECHE, C.M., and SCHUCHMAN, E.H. (1991). Regional assignment of the human acid sphingomyelinase gene by PCR analysis of somatic cell hybrids and in situ hybridization to 11p15.1-p15.4. Genomics 9, 229-234.
22. PFLANDLER, U. (1946). La maladie de Niemann-Pick dans le cadre des lipoidoses. Schweiz. Med. Wschr. 76, 1128.
23. RATAZZI, M.C., and DOBRENIS, K. (1991). Enzyme replacement overview and prospects. In Desnick RJ (ed) Treatment of Genetic Diseases, Churchill-Livingstone, New York, pp. 131-152.
24. SCHETTLER, G., and KAHLKE, W. (1967). Niemann-Pick disease, In Schettler G (ed) Lipids and Lipidoses. Springer-Verlag, New York.
25. 2+-stimulated sphyngomyelinase is secreted by many cell types and is a product of the acid sphingomyelinase gene. J Biol. Chem. 271, 18431-18436.
26. SCHUCHMAN, E.H., SUCHI, M., TAKAHASHI, T., SANDHOFF, K., and DESNICK, R.J. (1991). Human acid sphingomyelinase. Isolation, nucleotide sequence and expression of the full-length and alternatively spliced cDNAs. J. Biol. Chem. 266, 8531-8539.
27. SCHUCHMAN, E.H., LEVRAN, O., PEREIRA, L.V., and DESNICK, R.J. (1992). Structural organization and complete nucleotide sequence of the gene encoding human acid sphingomyelinase (SMPD1). Genomics 12, 197-205.
28. SCHUCHMAN, E.H., and DESNICK, R.J. (1995). Niemann-Pick disease types A and B: Acid sphingomyelinase deficiencies. In Scriver CR, Beaudet A, Sly WS, Valle D (eds) The Metabolic and Molecular Basis of Inherited Disease, McGraw-Hill, New York, pp. 2601-2624.
29. SCHUCHMAN, E.H. (1995). Two new mutations in the acid sphingomyelinase gene causing Type A Niemann-Pick disease: N389T and R441X. Hum. Mut. 6, 352-354.
30. SPENCE, M.N., and CALLAHAN, J.W. (1989). Sphingomyelin-cholesterol lipidoses: The Niemann-Pick group of diseases. In Scriver CR, Beaudet AL, Sly WS, Valle D (eds) The Metabolic and Molecular Basis of Inherited Disease. McGraw-Hill, New York, pp. 1655-1676.
31. TAKAHASHI, T., SUCHI, M., DESNICK, R.J., TAKADA, G., and SCHUCHMAN, E.H. (1992a). Identification and expression of five new mutations in the acid sphingomyelinase gene which cause type A and B Niemann-Pick disease. Molecular evidence for genetic heterogeneity in the neuronopathic and non-neuronopathic forms. J. Biol. Chem. 267, 12552-12558.
32. TAKAHASHI, T., DESNICK, R.J., TAKADA, G., and SCHUCHMAN, E.H. (1992b). Identification of a missense mutation (S436R) in the acid sphingomyelinase gene from a Japanese patient with type B Niemann-Pick disease. Hum. Mut. 1, 70-71.
33. TAKAHASHI, T., SUCHI, M., SATO, W., TEN, S.B., SAKURAGAWA, N., DESNICK, R.J., SCHUCHMAN, E.H., and TAKADA, G. (1995). Identification and expression of a missense mutation (Y446C) in the acid sphingomyelinase gene from a Japanese patient with type A Niemann-Pick disease. Tohoku J. Exp. Med. 177, 117-123.
34. VANIER, M.T., FERLINZ, K., ROUSSON, R., DUTHEL, S., LOUISOT, P., SANDHOFF, K., and SUZUKI, K. (1993). Deletion of arginine (608) in acid sphingomyelinase is the prevalent mutation among Niemann-Pick disease type B patients from northern Africa. Hum. Genet. 92, 325-330.