Two exon-skipping mutations as the molecular basis of succinic semialdehyde dehydrogenase deficiency (4-hydroxybutyric aciduria)

American Journal of Human Genetics

Volumn 63, Issue 2, 1998, Pages 399-408

  Chambliss, Ken L ^a   Hinson, Debra D ^a   Trettel, Flavia ^c   Malaspina, Patrizia ^c   Novelletto, Andrea ^c   Jakobs, Cornelis ^d   Gibson, K Michael ^a,b,e  

^a BAYLOR UNIVERSITY MEDICAL CENTER   (United States)

^b UNIVERSITY OF TEXAS SOUTHWESTERN MEDICAL CENTER   (United States)

^c UNIVERSITY OF ROME TOR VERGATA   (Italy)

^d VU UNIVERSITY MEDICAL CENTER   (Netherlands)

^e OREGON HEALTH AND SCIENCE UNIVERSITY   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

4 AMINOBUTYRIC ACID; 4 HYDROXYBUTYRIC ACID; SUCCINATE SEMIALDEHYDE DEHYDROGENASE;

4 AMINOBUTYRIC ACID METABOLISM; ACIDURIA; ARTICLE; AUTOSOMAL RECESSIVE INHERITANCE; CONTROLLED STUDY; ENZYME DEFICIENCY; EXON; FEMALE; GENE DELETION; GENE SEQUENCE; HUMAN; HUMAN CELL; MAJOR CLINICAL STUDY; MALE; NUCLEOTIDE SEQUENCE; POINT MUTATION; PRIORITY JOURNAL; RNA SPLICING; TRANSCRIPTION TERMINATION;

EID: 0032231363     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1086/301964     Document Type: Article

References (23)

1. Cash CD, Maitre M, Mandel P (1979) Purification from human brain and some properties of two NADPH-linked aldehyde reductases which reduce succinic semialdehyde to 4-hydroxybutyrate. J Neurochem 33:1169-1175
2. Chambliss KL, Caudle DL, Hinson DD, Moomaw CR, Slaughter CA, Jakobs C, Gibson KM (1995) Molecular cloning of the mature NAD(+)-dependent succinic semialdehyde dehydrogenase from rat and human: cDNA isolation, evolutionary homology, and tissue expression. J Biol Chem 270: 461-467
3. Chambliss KL, Gibson KM (1992) Succinic semialdehyde dehydrogenase from mammalian brain: subunit analysis using polyclonal antiserum. Int J Biochem 24:1493-1499
4. Chambliss KL, Lee CF, Ogier H, Rabier D, Jakobs C, Gibson KM (1993) Enzymatic and immunological demonstration of normal and defective succinic semialdehyde dehydrogenase activity in fetal brain, liver and kidney. J Inherit Metab Dis 16:523-526
5. De Vivo DC, Gibson KM, Resor LD, Steinschneider M, Aramaki S, Cote L (1988) 4-Hydroxybutyric acidemia: clinical features, pathogenetic mechanisms, and treatment strategies. Ann Neurol 24:304
6. Gavel Y, von Heijne G (1990) Cleavage-site motifs in mitochondrial targeting peptides. Protein Eng 4:33-37
7. Gibson KM, Baumann C, Ogier H, Rossier E, Vollmer B, Jakobs C (1994) Pre- and postnatal diagnosis of succinic semialdehyde dehydrogenase deficiency using enzyme and metabolite assays. J Inherit Metab Dis 17:732-737
8. Gibson KM, Christensen E, Jakobs C, Fowler B, Clarke MA, Hammersen G, Raab K, et al (1997) Clinical phenotype of succinic semialdehyde dehydrogenase deficiency (4-hydroxybutyric aciduria): case reports of 23 new patients. Pediatrics 99:567-574
9. Gibson KM, Goodman SI, Frerman FE, Glasgow AM (1989) Succinic semialdehyde dehydrogenase deficiency associated with combined 4-hydroxybutyric and dicarboxylic acidurias: potential for clinical misdiagnosis based on urinary organic acid profiling. J Pediatr 114:607-610
10. Gibson KM, Jakobs C, Ogier H, Hagenfeldt L, Eeg-Olofsson KE, Eeg-Olofsson O, Aksu F, et al (1995) Vigabatrin therapy in six patients with succinic semialdehyde dehydrogenase deficiency. J Inherit Metab Dis 18:143-146
11. Gibson KM, Lee CF, Chambliss KL, Kamali V, Francois B, Jaeken J, Jakobs (1991) 4-Hydroxybutyric aciduria: application of a fluorometric assay to the determination of succinic semialdehyde dehydrogenase activity in extracts of cultured human lymphoblasts. Clin Chim Acta 196:219-221
12. Haan EA, Brown GK, Mitchell D, Danks DM (1985) Succinic semialdehyde dehydrogenase deficiency: a further case. J Inherit Metab Dis 8:99
13. Hempel J, Nicholas H, Lindahl R (1993) Aldehyde dehydrogenases: widespread structural and functional diversity within a shared framework. Protein Sci 2:1890-1900
14. Jakobs C, Bojasch M, Monch E, Rating D, Siemes H, Hanefeld F (1981) Urinary excretion of gamma-hydroxybutyric acid in a patient with neurological abnormalities: the probability of a new inborn error of metabolism. Clin Chim Acta 111: 169-178
15. Jakobs C, Ogier H, Rabier D, Gibson KM (1993) Prenatal detection of succinic semialdehyde dehydrogenase deficiency (4-hydroxybutyric aciduria). Prenat Diagn 13:150
16. Jakobs C, Smit LM, Kneer J, Michael T, Gibson KM (1990) The first adult case with 4-hydroxybutyric aciduria. J Inherit Metab Dis 13:341-344
17. Kozak M (1991) Structural features in eukaryotic mRNAs that modulate the initiation of translation. J Biol Chem 266: 19867-19870
18. Krawczak M, Reiss J, Cooper DN (1992) The mutational spectrum of single base-pair substitutions in mRNA splice junctions of human genes: causes and consequences. Hum Genet 90:41-54
19. Lennon G, Auffray C, Polymeropoulos M, Soares MB (1996) The I.M.A.G.E. Consortium: an integrated molecular analysis of genomes and their expression. Genomics 33:151-152
20. Matern D, Lehnert W, Gibson KM, Korinthenberg R (1996) Seizures in a boy with succinic semialdehyde dehydrogenase deficiency treated with vigabatrin (gamma-vinyl-GABA). J Inherit Metab Dis 19:313-318
21. Roe CR, Coates PM (1995) Mitochondrial fatty acid oxidation disorders. In: Scriver CR, Beaudet AL, Sly WS, Valle D (eds) The metabolic and molecular basis of inherited disease. McGraw-Hill, New York, pp 1501-1530
22. Trettel F, Malaspina P, Jodice C, Novelletto A, Slaughter CA, Caudle DL, Hinson DD, et al (1996) Human succinic semialdehyde dehydrogenase: molecular cloning and chromosomal localization. Adv Exp Med Biol 414:253-260
23. Vasiliou V, Yoshida A, Lindahl R, Holmes R, Hsu LC, Agarwal DP, Bairoch A, et al. Mammalian aldehyde dehydrogenase genes: recommended nomenclature based on divergent evolution, chromosomal mapping, and human polymorphisms. Pharmacogenetics (in press)