A 6-bp deletion at the splice donor site of the first intron resulted in aberrant splicing using a cryptic splice site within exon 1 in a patient with succinyl-CoA: 3-Ketoacid CoA transferase (SCOT) deficiency

Molecular Genetics and Metabolism

Volumn 89, Issue 3, 2006, Pages 280-282

  Fukao, Toshiyuki ^a   Sakurai, Satomi ^a   Rolland, Marie Odile ^b   Zabot, Marie Therese ^b   Schulze, Andreas ^c   Yamada, Keitaro ^a   Kondo, Naomi ^a  

^a GIFU UNIVERSITY   (Japan)

^b HÔPITAL DEBROUSSE   (France)

^c UNIVERSITY OF HEIDELBERG   (Germany)

Author keywords

Aberrant splicing; Cryptic splice site; Ketone body metabolism; Mutation; Splic donor site; Succinyl CoA: 3 ketoacid CoA transferase

Indexed keywords

3 OXOACID COENZYME A TRANSFERASE; KETONE BODY; MESSENGER RNA;

ARTICLE; CASE REPORT; ENZYME DEFICIENCY; EXON; FEMALE; GENE DELETION; GENE LOCATION; GENE LOCUS; GENETIC DISORDER; HUMAN; INTRON; METABOLIC DISORDER; METABOLISM; MUTATIONAL ANALYSIS; PRESCHOOL CHILD; PRIORITY JOURNAL; RNA ANALYSIS; RNA PROCESSING; RNA SPLICING; SUCCINYL COA 3 KETOACID COA TRANSFERASE DEFICIENCY;

BASE PAIRING; BASE SEQUENCE; COENZYME A-TRANSFERASES; DNA MUTATIONAL ANALYSIS; EXONS; FEMALE; HUMANS; INFANT; INTRONS; MOLECULAR SEQUENCE DATA; RNA SPLICE SITES; RNA SPLICING; SEQUENCE DELETION;

EID: 33748980383     PISSN: 10967192     EISSN: 10967206     Source Type: Journal    
DOI: 10.1016/j.ymgme.2006.04.014     Document Type: Article

References (14)

1. Mitchell G.A., and Fukao T. Chapter102 Inborn errors of ketone body catabolism. In: Scriver C.R., Beaudet A.L., Sly W.S., and Valle D. (Eds). Metabolic and Molecular Bases of Inherited Disease. 8th ed. (2001), McGraw-Hill Inc, NewYork 2327-2356
2. Tildon J.T., and Cornblath M. Succinyl-CoA:3-ketoacid CoA transferase deficiency: a cause for ketoacidosis in infancy. J. Clin. Invest. 51 (1972) 493-498
3. Kassovska-Bratinoba S., Fukao T., Song X.Q., Duncan A.M.V., Chen H.S., Robert M.F., Perez-Cerda C., Ugarte M., Chartrand C., Vobecky S., Kondo N., and Mitchell G.A. Succinyl CoA:3-oxoacid CoA transferase (SCOT): human cDNA cloning, human chromosomal mapping to 5p13, and mutation detection in a SCOT-deficient patient. Am. J. Hum. Genet. 59 (1996) 519-528
4. Song X.Q., Fukao T., Mitchell G.A., Kassovska-Bratinova S., Ugarte M., Wanders R.J.A., Hirayama K., Shintaku H., Churchill P., Watanabe H., Orii T., and Kondo N. Succinyl-CoA: 3-ketoacid coenzyme A transferase (SCOT): development of an antibody to human SCOT and diagnostic use in hereditary SCOT deficiency. Biochim. Biophys. Acta 1360 (1997) 151-156
5. Song X.Q., Fukao T., Watanabe H., Shintaku H., Hirayama K., Kassovska-Bratinova S., Kondo N., and Mitchell G.A. Succinyl-CoA:3-ketoacid CoA transferase (SCOT) deficiency: two pathogenic mutations, V133E and C456F, in Japanese siblings. Hum. Mutat. 12 (1998) 83-88
6. Fukao T., Mitchell G.A., Song X.Q., Nakamura H., Kassovska-Bratinova S., Orii K.E., Wraith J.E., Besley G., Wanders R.J., Niezen-Koning K.E., Berry G.T., Palmieri M., and Kondo N. Succinyl-CoA:3-ketoacid CoA transferase (SCOT): cloning of the human SCOT gene, tertiary structural modeling of the human SCOT monomer, and characterization of three pathogenic mutations. Genomics 68 (2000) 144-151
7. Berry G.T., Fukao T., Mitchell G.A., Mazur A., Ciafre M., Gibson J., Kondo N., and Palmieri M.J. Neonatal hypoglycemia in severe succinyl-CoA:3-ketoacid CoA transferase (SCOT) deficiency. J. Inherit. Metab. Dis. 24 (2001) 587-595
8. Longo N., Fukao T., Singh R., Pasquali M., Barrios R.G., Kondo N., and Gibson K.M. Succinyl-CoA:3-keto acid transferase (SCOT) deficiency in a new patient homozygous for an R217X mutation. J. Inherit. Metab. Dis. 27 (2004) 691-692
9. Fukao T., Shintaku H., Kusubae R., Zhang G.-X., Nakamura K., Kondo M., and Kondo N. Patients homozygous for the T435N mutation of succinyl-CoA:3-ketoacid CoA transferase (SCOT) do not show permanent ketosis. Pediatr. Res. 56 (2004) 858-863
10. Williamson D.H., Bates M.W., Page M.A., and Krebs H.A. Activities of enzymes involved in acetoacetate utilization in adult mammalian tissues. Biochem. J. 121 (1971) 41-47
11. Sakazaki H., Hirayama K., Murakami S., Yonezawa S., Shintaku H., Sawada Y., Fukao T., Watanabe H., Orii T., and Isshiki G. A new Japanese case of succinyl-CoA:3-ketoacid CoA-transferase deficiency. J. Inherit. Metab. Dis. 18 (1995) 323-325
12. Balemans W., Cleiren E., Siebers U., Horst J., and Van Hul W. A generalized skeletal hyperostosis in two siblings caused by a novel mutation in the SOST gene. Bone 36 (2005) 943-947
13. Gonzalez A.A., Reyes M.L., Carvajal C.A., Tobar J.A., Mosso L.M., Baquedano P., Solar A., Venegas A., and Fardella C.E. Congenital lipoid adrenal hyperplasia caused by a novel splicing mutation in the gene for the steroidogenic acute regulatory protein. J. Clin. Endocrinol. Metab. 89 (2004) 946-951
14. Shapiro M.B., and Senapathy P. RNA splicing junctions of different classes of eukaryotes: sequence statistics and functional implications in gene expression. Nucleic Acids Res. 15 (1987) 7155-7174