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. 1997 Jul;34(7):594–596. doi: 10.1136/jmg.34.7.594

Phosphoserine phosphatase deficiency in a patient with Williams syndrome.

J Jaeken 1, M Detheux 1, J P Fryns 1, J F Collet 1, P Alliet 1, E Van Schaftingen 1
PMCID: PMC1051004  PMID: 9222972

Abstract

Decreased serine levels were found in plasma and cerebrospinal fluid (CSF) of a boy with pre- and postnatal growth retardation, moderate psychomotor retardation, and facial dysmorphism suggestive of Williams syndrome. Fluorescence in situ hybridisation with an elastin gene probe indicated the presence of a submicroscopic 7q11.23 deletion, confirming this diagnosis. Further investigation showed that the phosphoserine phosphatase (EC 3.1.3.3.) activity in lymphoblasts and fibroblasts amounted to about 25% of normal values. Oral serine normalised the plasma and CSF levels of this amino acid and seemed to have some clinical effect. These data suggest that the elastin gene and the phosphoserine phosphatase gene might be closely linked. This seems to be the first report of phosphoserine phosphatase deficiency.

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Selected References

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  1. BORKENHAGEN L. F., KENNEDY E. P. The enzymatic exchange of L-serine with O-phospho-L-serine catalyzed by a specific phosphatase. J Biol Chem. 1959 Apr;234(4):849–853. [PubMed] [Google Scholar]
  2. Ewart A. K., Morris C. A., Atkinson D., Jin W., Sternes K., Spallone P., Stock A. D., Leppert M., Keating M. T. Hemizygosity at the elastin locus in a developmental disorder, Williams syndrome. Nat Genet. 1993 Sep;5(1):11–16. doi: 10.1038/ng0993-11. [DOI] [PubMed] [Google Scholar]
  3. Jaeken J., Detheux M., Van Maldergem L., Foulon M., Carchon H., Van Schaftingen E. 3-Phosphoglycerate dehydrogenase deficiency: an inborn error of serine biosynthesis. Arch Dis Child. 1996 Jun;74(6):542–545. doi: 10.1136/adc.74.6.542. [DOI] [PMC free article] [PubMed] [Google Scholar]
  4. Knox W. E., Herzfeld A., Hudson J. Phosphoserine phosphatase distribution in normal and neoplastic rat tissues. Arch Biochem Biophys. 1969 Jul;132(2):397–403. doi: 10.1016/0003-9861(69)90381-6. [DOI] [PubMed] [Google Scholar]
  5. Koch G. A., Eddy R. L., Haley L. L., Byers M. G., McAvoy M., Shows T. B. Assignment of the human phosphoserine phosphatase gene (PSP) to the pter leads to q22 region of chromosome 7. Cytogenet Cell Genet. 1983;35(1):67–69. doi: 10.1159/000131839. [DOI] [PubMed] [Google Scholar]
  6. Lund K., Merrill D. K., Guynn R. W. The reactions of the phosphorylated pathway of L-serine biosynthesis: thermodynamic relationships in rabbit liver in vivo. Arch Biochem Biophys. 1985 Feb 15;237(1):186–196. doi: 10.1016/0003-9861(85)90268-1. [DOI] [PubMed] [Google Scholar]
  7. McClard R. W. Synthesis and purification of [1-32p]fructose-1,6-bisophosphate with high specific radioactivity. Anal Biochem. 1979 Jul 15;96(2):500–503. doi: 10.1016/0003-2697(79)90612-2. [DOI] [PubMed] [Google Scholar]
  8. Minelli A., Piantanida M., Maserati E., Campagnoli E., Pasquali F., Danesino C. Gene dosage effect in acquired monosomy 7: distinct behaviour of beta-glucuronidase and phosphoserine phosphatase. Genes Chromosomes Cancer. 1990 Jan;1(3):216–220. doi: 10.1002/gcc.2870010305. [DOI] [PubMed] [Google Scholar]
  9. Moro-Furlani A. M., Turner V. S., Hopkinson D. A. Genetical and biochemical studies on human phosphoserine phosphatase. Ann Hum Genet. 1980 May;43(4):323–333. doi: 10.1111/j.1469-1809.1980.tb01566.x. [DOI] [PubMed] [Google Scholar]
  10. Morris C. A., Demsey S. A., Leonard C. O., Dilts C., Blackburn B. L. Natural history of Williams syndrome: physical characteristics. J Pediatr. 1988 Aug;113(2):318–326. doi: 10.1016/s0022-3476(88)80272-5. [DOI] [PubMed] [Google Scholar]
  11. Novelli G., Dallapiccola B. Gene dosage studies regionally assign the phosphoserine phosphatase gene to 7p15.1 or 2. Ann Genet. 1988;31(3):195–196. [PubMed] [Google Scholar]
  12. Snell K. Enzymes of serine metabolism in normal and neoplastic rat tissues. Biochim Biophys Acta. 1985 Dec 13;843(3):276–281. doi: 10.1016/0304-4165(85)90149-7. [DOI] [PubMed] [Google Scholar]
  13. Snell K. Enzymes of serine metabolism in normal, developing and neoplastic rat tissues. Adv Enzyme Regul. 1984;22:325–400. doi: 10.1016/0065-2571(84)90021-9. [DOI] [PubMed] [Google Scholar]
  14. Sparkes R. S., Mohandas T., Sparkes M. C. The human phosphoserine phosphatase gene (PSP) is mapped to chromosome 7 by somatic cell genetic analysis. Cytogenet Cell Genet. 1983;35(1):70–71. doi: 10.1159/000131840. [DOI] [PubMed] [Google Scholar]
  15. WILLIAMS J. C., BARRATT-BOYES B. G., LOWE J. B. Supravalvular aortic stenosis. Circulation. 1961 Dec;24:1311–1318. doi: 10.1161/01.cir.24.6.1311. [DOI] [PubMed] [Google Scholar]

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