Molecular basis of very long chain acyl-CoA dehydrogenase deficiency in three Israeli patients: Identification of a complex mutant allele with P65L and K247Q mutations, the former being an exonic mutation causing exon 3 skipping

Human Mutation

Volumn 15, Issue 5, 2000, Pages 430-438

  Watanabe, Hiroh ^a   Orii, Kenji E ^a   Fukao, Toshiyuki ^a   Song, Xiang Qian ^a   Aoyama, Toshifumi ^b   IJlst, Lodewijk ^c   Ruiter, Jos ^c   Wanders, Ronald J A ^c   Kondo, Naomi ^a  

^a GIFU UNIVERSITY SCHOOL OF MEDICINE   (Japan)

^b SHINSHU UNIVERSITY SCHOOL OF MEDICINE   (Japan)

^c ACADEMIC MEDICAL CENTER   (Netherlands)

Author keywords

Aberrant splicing; ACADVL; Acyl CoA dehydrogenase; Childhood disease; Exon skipping; Mutation analysis; Very long chain; VLCAD

Indexed keywords

ACYL COENZYME A DEHYDROGENASE;

ALLELE; ARTICLE; CONTROLLED STUDY; ENZYME DEFICIENCY; EXON; FRAMESHIFT MUTATION; GENE EXPRESSION; GENE MUTATION; GENETIC ANALYSIS; HOMOZYGOSITY; HUMAN; HUMAN CELL; INTRON; ISRAEL; NONSENSE MUTATION; PRIORITY JOURNAL; RNA SPLICING;

ACYL-COA DEHYDROGENASE, LONG-CHAIN; ALTERNATIVE SPLICING; AMINO ACID SUBSTITUTION; ARABS; CELLS, CULTURED; DNA MUTATIONAL ANALYSIS; EXONS; FIBROBLASTS; HUMANS; ISRAEL; JEWS; LIPID METABOLISM, INBORN ERRORS; RUSSIA; SKIN;

EID: 0034029098     PISSN: 10597794     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1098-1004(200005)15:5<430::AID-HUMU4>3.0.CO;2-1     Document Type: Article

References (26)

1. Andresen BS, Bross P, Vianey-Saban C, Divry P, Zabot MT, Roe CR, Nada MA, Byskov A, Kruse TA, Neve S, Kristiansen K, Knudsen I, Corydon MJ, Gregersen N. 1996. Cloning and characterization of human very long chain acyl-CoA dehydrogenase cDNA, chromosomal assignment of the gene and identification in four patients of nine different mutations within the VLCAD gene. Hum Mol Genet 5:461-472.
2. Andresen BS, Olpin S, Poorthuis BJ, Scholte HR, Vianey-Saban C, Wanders R, IJlst L, Morris A, Pourfarzam M, Bartlett K, Baumgartner ER, deKlerk JB, Schroeder LD, Corydoon TJ, Lund H, Winter V, Bross P, Bolund L, Gregersen N. 1999. Clear correlation of genotype with disease phenotype in very long chain acyl-CoA dehydrogenase deficiency. Am J Hum Genet 64:479-494.
3. Aoyama T, Uchida Y, Kelly RI, Marble M, Hofman K, Tonsgard JH, Rhead WJ, Hashimoto T. 1993. A novel disease with deficiency of mitochondrial very long chain acyl-CoA dehydrogenase. Biochem Biophys Res Comm 191:1369-1372.
4. Aoyama T, Souri M, Ushikubo S, Kamijo T, Yamaguchi S, Kelley RI, Rhead WJ, Uetake K, Tanaka K, Hashimoto T. 1995a. Purification of human very long chain acyl-coenzyme A dehydrogenase and characterization of its deficiency in seven patients. J Clin Invest 95:2465-2473.
5. Aoyama T, Souri M, Ueno I, Kamijo T, Yamaguchi S, Rhead WJ, Tanaka K, Hashimoto T. 1995b. Cloning of human very long chain acyl-coenzyme A dehydrogenase and molecular characterization of its deficiency in two patients. Am J Hum Genet 57:273-283.
6. Bertrand C, Largilliere C, Zabot MT, Mathieu M, Vianey-Saban C. 1993. Very long chain acyl-CoA dehydrogenase deficiency: identification of new inborn error of mitochondrial fatty acid oxidation in fibroblasts. Biochim Biophys Acta 1180:327-329.
7. Cooper TA, Mattox W. 1997. Gene regulation '97. The regulation of splice site selection, and its role in human disease. Am J Hum Genet 61:219-266.
8. Cox GF, Souri M, Aoyama T, Rockenmacher S, Varvogli L, Rohr F, Hashimoto T, Korson MS. 1998. Reversal of severe hypertrophic cardiomyopathy and excellent neuropsychologic outcome in very long chain acyl-coenzyme A dehydrogenase deficiency. J Pediatr 133:247-253.
9. Dietz HC, Valle D, Francomano CA, Kendzior RJ Jr, Pyeritz RE, Cutting GR. 1993. The skipping of constitutive exons in vivo induced by nonsense mutations. Science 259:680-683.
10. Efstratiadis A, Katatos FC, Maniatis T. 1977. The primary structure of rabbit β-globin mRNA as determined from cloned DNA. Cell 10:571-585.
11. Fukao T, Yamaguchi S, Wakazono A, Orii T, Hoganson G, Hashimoto T. 1994. Identification of a novel exonic mutation at -13 from 5′ splice site causing exon skipping in a girl with mitochondrial acetoacetyl-coenzyme A thiolase deficiency. J Clin Invest 93:1035-1041.
12. Hull J, Shackleton S, Harris A. 1994. The stop mutation R553X in the CFTR gene results in exon skipping. Genomics 19:362-364.
13. IJlst L, Wanders RJ. 1993. A simple spectrophotometric assay for long chain acyl-CoA dehydrogenase activity measurements in human skin fibroblasts. Ann Clin Biochem 30:293-297.
14. Izai K, Uchida Y, Orii T, Yamamoto S, Hashimoto T. 1992. Novel fatty acid β-oxidation enzymes in rat liver mitochondria. I. Purification and properties of very long chain acyl-coenzyme A dehydrogenase. J Biol Chem 267:1027-1033.
15. Merinero B, Perez-Cerda C, Garcia MJ, Gangoiti J, Font LM, Garcia Silva MT, Vianey-Saban C, Duran M, Ugarte M. 1996. Mitochondrial very long chain acyl-CoA dehydrogenase deficiency with a mild clinical course. J Inher Metab Dis 19:173-176.
16. Niwa H, Yamamura K, Miyazaki J. 1991. Efficient selection for high-expression transfectants with a novel eukaryotic vector. Gene 108:193-200.
17. Okamoto H, Sukegawa K, Tomatsu S, Suzuki Y, Orii T. 1992. Optimization of electroporation for transfection of human fibroblast cell lines with origin-defective SV40 DNA: development of human transformed fibroblast cell lines with mucopolysaccharidoses (I-VII). Cell Struct Funct 17:123-128.
18. Orii KO, Aoyama T, Souri M, Orii KE, Kondo N, Orii T, Hashimoto T. 1995. Genomic DNA organization of human mitochondrial very long chain acyl-CoA dehydrogenase and mutation analysis. Biochem Biophys Res Commun 217:987-992.
19. Smelt AHM, Poorthuis BJHM, Onkenhout W, Scholte HR, Andresen BS, van Duinen SG, Gregersen N, Wintzen AR. 1998. Very long chain acyl-coenzyme A dehydrogenase deficiency with adult onset. Ann Neurol 43:540-544.
20. Song XQ, Fukao T, Yamaguchi S, Miyazawa S, Hashimoto T, Orii T. 1994. Molecular cloning and nucleotide sequence of complementary DNA for human hepatic cytosolic acetoacetyl-coenzyme A thiolase. Biochem Biophys Res Commun 201:478-485.
21. Souri M, Aoyama T, Orii K, Yamaguchi S, Hashimoto T. 1996. Mutation analysis of very long chain acyl-coenzyme A dehydrogenase (VLCAD) deficiency: identification and characterization of mutant VLCAD cDNAs from four patients. Am J Hum Genet 58:97-106.
22. Strauss AW, Powell CK, Hale DE, Anderson MM, Ahuja A, Brackett JC, Sims HF. 1995. Molecular basis of human mitochondrial very long chain acyl-CoA dehydrogenase deficiency causing cardiomyopathy and sudden death in childhood. Proc Natl Acad Sci USA 92:10496-10500.
23. Uchida Y, Izai K, Orii T, Hashimoto T. 1992. Novel fatty acid b-oxidation enzymes in rat liver mitochondria. II. Purification and properties of enoyl-coenzyme A (CoA) hydratase/3-hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase trifunctional protein. J Biol Chem 267:1034-1041.
24. Valentine CR. 1998. The association of nonsense codons with exon skipping. Mutat Res 411:87-117.
25. Verity MA, Turnbull DM. 1993. Assay of acyl-CoA dehydrogenase activity in frozen muscle biopsy: application to medium chain acyl-CoA dehydrogenase deficiency. Biochem Med Metab Biol 49:351-362.
26. Wanders RJ, IJlst L, Poggi F, Bonnefont JP, Munnich A, Brivet M, Rabier D, Saudubray JM. 1992. Human trifunctional protein deficiency: a new disorder of mitochondrial fatty acid beta-oxidation. Biochem Biophys Res Commun 188:1139-1145.