A novel missense LIPA gene mutation, N98S, in a patient with cholesteryl ester storage disease

Clinica Chimica Acta

Volumn 398, Issue 1-2, 2008, Pages 152-154

  Hooper, Amanda J ^a   Tran, Huy A ^b,c   Formby, Mark R ^b,c   Burnett, John R ^a,d  

^a ROYAL PERTH HOSPITAL   (Australia)

^b JOHN HUNTER HOSPITAL   (Australia)

^c UNIVERSITY OF NEWCASTLE   (Australia)

^d UNIVERSITY OF WESTERN AUSTRALIA   (Australia)

Author keywords

Cholesteryl ester storage disease; LIPA; Lysosomal acid lipase; Mutation; Wolman disease

Indexed keywords

ACID LIPASE;

ADULT; ARTICLE; CASE REPORT; CHOLESTEROL ESTER STORAGE DISEASE; CLINICAL FEATURE; EXON; FEMALE; GENE; GENE MUTATION; GENE SEQUENCE; HISTOPATHOLOGY; HUMAN; HUMAN TISSUE; LIPA GENE; LIVER BIOPSY; MISSENSE MUTATION; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; WOLMAN DISEASE;

ABDOMINAL PAIN; ADULT; CHOLESTEROL ESTER STORAGE DISEASE; DNA PRIMERS; EXONS; FEMALE; HETEROZYGOTE; HUMANS; LIVER; LIVER FUNCTION TESTS; MUTATION, MISSENSE; PROTEIN ISOFORMS; REVERSE TRANSCRIPTASE POLYMERASE CHAIN REACTION; STEROL ESTERASE;

EID: 54049086492     PISSN: 00098981     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.cca.2008.08.007     Document Type: Article

References (13)

1. Assmann G., and Seedorf U. Acid lipase deficiency: Wolman disease and cholesteryl ester storage disease. In: Scriver C.R., Beaudet A.L., Sly W.S., Valle D., Childs B., Kinzler K., et al. (Eds). The metabolic and molecular bases of inherited disease. 8th ed. (2001), McGraw-Hill, New York 3551-3572
2. Aslanidis C., Ries S., Fehringer P., Buchler C., Klima H., and Schmitz G. Genetic and biochemical evidence that CESD and Wolman disease are distinguished by residual lysosomal acid lipase activity. Genomics 33 (1996) 85-93
3. Klima H., Ullrich K., Aslanidis C., Fehringer P., Lackner K.J., and Schmitz G. A splice junction mutation causes deletion of a 72-base exon from the mRNA for lysosomal acid lipase in a patient with cholesteryl ester storage disease. J Clin Invest 92 (1993) 2713-2718
4. Muntoni S., Wiebusch H., Funke H., Ros E., Seedorf U., and Assmann G. Homozygosity for a splice junction mutation in exon 8 of the gene encoding lysosomal acid lipase in a Spanish kindred with cholesterol ester storage disease (CESD). Hum Genet 95 (1995) 491-494
5. Pagani F., Pariyarath R., and Garcia R. New lysosomal acid lipase gene mutants explain the phenotype of Wolman disease and cholesteryl ester storage disease. J Lipid Res 39 (1998) 1382-1388
6. Lohse P., Maas S., and Lohse P. Compound heterozygosity for a Wolman mutation is frequent among patients with cholesteryl ester storage disease. J Lipid Res 41 (2000) 23-31
7. Lohse P., Lohse P., Chahrokh-Zadeh S., and Seidel D. The acid lipase gene family: three enzymes, one highly conserved gene structure. J Lipid Res 38 (1997) 880-891
8. Lohse P., Chahrokh-Zadeh S., Lohse P., and Seidel D. Human lysosomal acid lipase/cholesteryl ester hydrolase and human gastric lipase: identification of the catalytically active serine, aspartic acid, and histidine residues. J Lipid Res 38 (1997) 892-903
9. Anderson R.A., and Sando G.N. Cloning and expression of cDNA encoding human lysosomal acid lipase/cholesteryl ester hydrolase. Similarities to gastric and lingual lipases. J Biol Chem 266 (1991) 22479-22484
10. Sheriff S., Du H., and Grabowski G.A. Characterization of lysosomal acid lipase by site-directed mutagenesis and heterologous expression. J Biol Chem 270 (1995) 27766-27772
11. Pagani F., Garcia R., and Pariyarath R. Expression of lysosomal acid lipase mutants detected in three patients with cholesteryl ester storage disease. Hum Mol Genet 5 (1996) 1611-1617
12. Ries S., Buchler C., and Schindler G. Different missense mutations in histidine-108 of lysosomal acid lipase cause cholesteryl ester storage disease in unrelated compound heterozygous and hemizygous individuals. Hum Mutat 12 (1998) 44-51
13. Muntoni S., Wiebusch H., and Jansen-Rust M. Prevalence of cholesteryl ester storage disease. Arterioscler Thromb Vasc Biol 27 (2007) 1866-1868