Identification of three novel mutations in the acid sphingomyelinase gene of Japanese patients with Niemann-Pick disease type A and B

Human Mutation

Volumn 7, Issue 1, 1996, Pages 65-67

  Ida, Hiroyuki ^a   Rennert, Owen M ^b   Maekawa, Kihei ^a   Eto, Yoshikatsu ^a  

^a JIKEI UNIVERSITY SCHOOL OF MEDICINE   (Japan)

^b GEORGETOWN UNIVERSITY HOSPITAL   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

SPHINGOMYELIN PHOSPHODIESTERASE;

ARTICLE; CASE REPORT; DNA DETERMINATION; GENE MUTATION; GENETIC ANALYSIS; HUMAN; HUMAN CELL; HUMAN TISSUE; JAPAN; NIEMANN PICK DISEASE; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; SEQUENCE ANALYSIS;

AGED; AMINO ACID SEQUENCE; BASE SEQUENCE; EXONS; HUMANS; JAPAN; MALE; MOLECULAR SEQUENCE DATA; MUTATION; NIEMANN-PICK DISEASES; POINT MUTATION; POLYMERASE CHAIN REACTION; SEQUENCE ANALYSIS, DNA; SPHINGOMYELIN PHOSPHODIESTERASE;

EID: 0030060340     PISSN: 10597794     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1098-1004(1996)7:1<65::AID-HUMU10>3.0.CO;2-Q     Document Type: Article

References (9)

1. Ferlinz K, Hurwitz R, Sandhoff K (1991) Molecular basis of acid sphingomyelinase deficiency in a patient with Niemann-Pick type A. Biochem Biophys Res Commun 179:1187-1191.
2. Levran O, Desnick RJ, Schuchman EH (1991a) Niemann-Pick disease: A frequent missense mutation in the acid sphingomyelinase gene of Ashkenazi Jewish type A and B patients. Proc Natl Acad Sci USA 88:3748-3752.
3. Levran O, Desnick RJ, Schuchman EH (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 type B patients. J Clin Invest 88:806-810.
4. Levran O, Desnick RJ, Schuchman EH (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.
5. Schuchman EH, Suchi M, Takahashi T, Sandhoff K, Desnick RJ (1991) Human acid sphingomyelinase - isolation, nucleotides sequence, and expression of the full-length and alternatively spliced cDNAs. J Biol Chem 266:8531-8539.
6. Schuchman EH, Levran O, Pereira LV, Desnick RJ (1992) Structural organization and complete nucleotide sequence of the gene encoding human acid sphingomyelinase (SMPD1). Genomics 12:197-205.
7. Takahashi T, Desnick RJ, Takada G, Schuchman EH (1992a) 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.
8. Takahashi T, Suchi M, Desnick RJ, Takada G, Schuchman EH (1992b) Identification and expression of five mutations in the human acid sphingomyelinase gene causing type A and type B Niemann-Pick disease. J Biol Chem 267:12552-12558.
9. Vanier MT, Ferlinz K, Rousson R, Duthel S, Louisot P, Sandohoff, 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.