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Mutation analysis in adenylosuccinate lyase deficiency: eight novel mutations in the re-evaluated full ADSL coding sequence.

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Marie, S. Cuppens, Harry [UCL] Heuterspreute, M Jaspers, Martine [UCL] Tola, E Z Legius, Eric [UCL] Vincent, Marie-Françoise [UCL] Van den Berghe, Georges [UCL]

The deficiency of adenylosuccinate lyase (ADSL, also termed adenylosuccinase) is an autosomal recessive disorder characterized by the accumulation in body fluids of succinylaminoimidazole-carboxamide riboside (SAICA-riboside) and succinyladenosine (S-Ado). Most ADSL-deficient children display marked psychomotor delay, often accompanied by epilepsy or autistic features, or both, although some patients may be less profoundly retarded. Occasionally, growth retardation and muscular wasting are also present. Up to now, nine missense mutations of the ADSL gene had been reported in six apparently unrelated sibships. In the present study of 10 additional patients with ADSL deficiency, nine point mutations, among which seven unreported missense mutations, and the first splicing error reported in this disorder, have been identified. These mutations have been characterized, taking into account the finding that the cDNA of human ADSL is 75 nucleotides longer at its 5'-end, and encodes a protein of 484 rather than 459 amino acids as previously reported. Five apparently unrelated patients were found to carry a R426H mutation. With the exceptions of the latter mutation, of a R190Q mutation that had been reported previously, and of a K246E mutation that was found in two unrelated patients, all other mutations were found only in a single family.

Document type Article de périodique (Journal article) – Journal Article, Research Support, Non-U.S. Gov't
Publication date 1999
Journal information "Human mutation" - Vol. 13, no. 3, p. 197-202 (1999)
Peer reviewed yes
issn 1059-7794
Publication status Publié
Affiliation UCL - MD/BICL - Département de biochimie et de biologie cellulaire
MESH Subject Adenylosuccinate Lyase - deficiency - genetics ; Child ; DNA Mutational Analysis ; DNA Primers ; Humans ; Mental Retardation - genetics ; Mutation ; Mutation, Missense ; Point Mutation ; RNA Splicing ; Reverse Transcriptase Polymerase Chain Reaction
Links
  1. Aimi, J Biol Chem, 265, 9011 (1990)
  2. Barshop Bruce A., Alberts Arthur S., Gruber Harry E., Kinetic studies of mutant human adenylosuccinase, 10.1016/0167-4838(89)90023-x
  3. Chomczynski Piotr, Sacchi Nicoletta, Single-step method of RNA isolation by acid guanidinium thiocyanate-phenol-chloroform extraction, 10.1016/0003-2697(87)90021-2
  4. Delattre Olivier, Azambuja Carlos J., Aurias Alain, Zucman Jessica, Peter Martine, Zhang Fangrong, Hors-Cayla Marie Claude, Rouleau Guy, Thomas Gilles, Mapping of human chromosome 22 with a panel of somatic cell hybrids, 10.1016/0888-7543(91)90366-m
  5. Fon E.A., Demczuk S., Delattre O., Thomas G., Rouleau G.A., Mapping of the human adenylosuccinate lyase (ADSL) gene to chromosome 22q13.1→q13.2, 10.1159/000133575
  6. Jackson Lan J., A reappraisal of non-consensus mRNA splice sites, 10.1093/nar/19.14.3795
  7. Jaeken, Lancet, 2, 1058 (1984)
  8. Jaeken J., Wadman S. K., Duran M., van Sprang F. J., Beemer F. A., Holl R. A., Theunissen P. M., de Cock P., van den Bergh F., Vincent M. F., van den Berghe G., Adenylosuccinase deficiency: an inborn error of purine nucleotide synthesis, 10.1007/bf00445919
  9. Jaeken J., Van Den Bergh F., Vincent M. F., Casaer P., Van den Berghe G., Adenylosuccinase deficiency: A newly recognized variant, 10.1007/bf02435992
  10. Kmoch, J Inher Metab Dis, 19, 13 (1996)
  11. Kmoch S., Hartmannová H., Krijt J., Valík D., Jones J.D., Šebesta L., Genetic heterogeneity in adenylosuccinate lyase deficiency, 10.1016/s0009-9120(97)87720-x
  12. Köhler, Eur J Pediatr Neurol (1999)
  13. Krijt J., Sebesta I., Svehlakova A., Zumrova A., Zeman J., Adenylosuccinate Lyase Deficiency in a Czech Girl and Two Siblings, Purine and Pyrimidine Metabolism in Man VIII (1995) ISBN:9781461361053 p.367-370, 10.1007/978-1-4615-2584-4_79
  14. Laikind Paul K., Seegmiller J.E., Gruber Harry E., Detection of 5′-phosphoribosyl-4-(N-succinylcarboxamide)-5-aminoimidazole in urine by use of the Bratton-Marshall reaction: Identification of patients deficient in adenylosuccinate lyase activity, 10.1016/0003-2697(86)90158-2
  15. Maaswinkel-Mooij P.D., Laan L. A. E. M., Onkenhout W., Brouwer O. F., Jaeken J., Poorthuis B. J. H. M., 10.1023/a:1005323512982
  16. Salerno C., Crifò C., Giardini O., Adenylosuccinase deficiency: a patient with impaired erythrocyte activity and anomalous response to intravenous fructose, 10.1007/bf02436005
  17. Šebesta I., Krijt J., Kmoch S., Hartmannová H., Wojda M., Zeman J., 10.1023/a:1005361408031
  18. 1991. Analysis of purines and pyrimidines in blood, urine, and other physiological fluids. In: editor. Techniques in diagnostic human biochemical genetics. New York: Wiley-Liss. p 397-424.
  19. Stone Randy L., Aimi Junko, Barshop Bruce A., Jaeken Jaak, Van den Berghe Georges, Zalkin Howard, Dixon Jack E., A mutation in adenylosuccinate lyase associated with mental retardation and autistic features, 10.1038/ng0492-59
  20. Stone, J Biol Chem, 268, 19710 (1993)
  21. Valik Dalibor, Miner Philip T, Jones James D, First U.S. case of adenylosuccinate lyase deficiency with severe hypotonia, 10.1016/s0887-8994(97)89979-1
  22. Van den Bergh Françoise, Françoise^Vincent M., Jaeken Jaak, Van den Berghe Georges, Radiochemical assay of adenylosuccinase: Demonstration of parallel loss of activity toward both adenylosuccinate and succinylaminoimidazole car☐amide ribotide in liver of patients with the enzyme defect, 10.1016/0003-2697(91)90023-m
  23. Van den Bergh F., Vincent M. F., Jaeken J., Van den Berghe G., Residual adenylosuccinase activities in fibroblasts of adenylosuccinase-deficient children: Parallel deficiency with adenylosuccinate and succinyl-AICAR in profoundly retarded patients and non-parallel deficiency in a mildly retarded girl, 10.1007/bf00710291
  24. van den Bergh F., Bosschaart A., Hageman G., Duran M., Poll-The Bwee, Adenylosuccinase Deficiency with Neonatal Onset Severe Epileptic Seizures and Sudden Death, 10.1055/s-2007-973536
  25. 1997. Adenylosuccinase deficiency: a disorder of purine synthesis. In: editors. The metabolic and molecular bases of inherited disease. CD-ROM. New York: McGraw-Hill.
  26. Van den Berghe G., Vincent M. F., Jaeken J., 10.1023/a:1005304722259
  27. VanKeuren M.L., Hart I.M., Kao F.-T., Neve R.L., Bruns G.A.P., Kurnit D.M., Patterson D., A somatic cell hybrid with a single human chromosome 22 corrects the defect in the CHO mutant (Ade–I) lacking adenylosuccinase activity, 10.1159/000132358
  28. Verginelli Daniela, Luckow Bruno, Crifò Carlo, Salerno Costantino, Gross Manfred, Identification of new mutations in the adenylosuccinate lyase gene associated with impaired enzyme activity in lymphocytes and red blood cells, 10.1016/s0925-4439(97)00086-0
  29. Wong Lee-Jun C., O'Brien William E., Characterization of the cDNA and the Gene Encoding Murine Adenylosuccinate Lyase, 10.1006/geno.1995.1152
Bibliographic reference Marie, S. ; Cuppens, Harry ; Heuterspreute, M ; Jaspers, Martine ; Tola, E Z ; et. al. Mutation analysis in adenylosuccinate lyase deficiency: eight novel mutations in the re-evaluated full ADSL coding sequence.. In: Human mutation, Vol. 13, no. 3, p. 197-202 (1999)
Permanent URL http://hdl.handle.net/2078.1/13039