Japanese triplets with cerebrotendinous xanthomatosis are homozygous for a mutant gene coding for the sterol 27-hydroxylase (Arg441Trp)

Neurology

Volumn 46, Issue 2, 1996, Pages 571-574

  Nagai, Y ^a,b   Hirano, M ^a,b   Mori, T ^a   Takakura, Y ^a   Tamai, S ^a   Ueno, S ^a  

^a NARA MEDICAL UNIVERSITY   (Japan)

^b OSAKA UNIVERSITY MEDICAL SCHOOL   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

STEROID MONOOXYGENASE;

ADULT; AMINO ACID SUBSTITUTION; ARTICLE; BILE ACID METABOLISM; CASE REPORT; CEREBROTENDINOUS XANTHOMATOSIS; CLINICAL FEATURE; GENE MUTATION; HUMAN; HUMAN TRIPLETS; MALE; NUCLEIC ACID BASE SUBSTITUTION; PRIORITY JOURNAL;

EID: 0029971502     PISSN: 00283878     EISSN: None     Source Type: Journal    
DOI: 10.1212/WNL.46.2.571     Document Type: Article

References (9)

1. Björkhem I, Skrede S. Familial diseases with storage of sterols other than cholesterol: cerebrotendinous xanthomatosis and phytosterolemia. In: Scriber CR, Beaudet AL, Sly WS, Valle D, eds. The metabolic basis of inherited disease. 6th ed. New York: McGraw-Hill, 1989:1283-1302.
2. Call JJ, Hsieh C-L, Francke U, Russell DW. Mutations in the bile acid biosynthetic enzyme sterol 27-hydroxylase underlie cerebrotendinous xanthomatosis. J Biol Chem 1991;266:7779-7783.
3. Reshef A, Meiner V, Berginer VM, Leitersdorf E. Molecular genetics of cerebrotendinous xanthomatosis in Jews of North African origin. J Lipid Res 1994;35:478-483.
4. Nakashima N, Sakai Y, Sakai H, et al. A point mutation in the bile acid biosynthetic enzyme sterol 27-hydroxylase in a family with cerebrotendinous xanthomatosis. J Lipid Res 1994;35: 663-668.
5. Kim K-S, Kubota S, Kuriyama M, et al. Identification of new mutations in sterol 27-hydroxylase gene in Japanese patients with cerebrotendinous xanthomatosis (CTX). J Lipid Res 1994; 35:1031-1039.
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7. Meiner V, Marais DA, Reshef A, Björkhem I, Leitersdorf E. Premature termination codon at the sterol 27-hydroxylase gene causes cerebrotendinous xanthomatosis in an Afrikaner family. Hum Mol Genet 1994;3:193-194.
8. James RS, Temple IK, Patch C, Thompson EM, Hassold T, Jacobs PA. A systematic search for uniparental disomy in carriers of chromosome translocations. Eur J Hum Genet 1994; 2:83-95.
9. Kuriyama M, Fujiyama J, Yoshidome H, et al. Cerebrotendinous xanthomatosis: clinical and biochemical evaluation of eight patients and review of the literature. J Neurol Sci 1991; 102:225-232.