Phosphoserine phosphatase deficiency in a patient with Williams syndrome

J Med Genet. 1997 Jul;34(7):594-6. doi: 10.1136/jmg.34.7.594.


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 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.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Administration, Oral
  • Chromosome Deletion
  • Chromosome Mapping
  • Chromosomes, Human, Pair 7
  • Humans
  • Infant
  • Male
  • Phosphoric Monoester Hydrolases / deficiency*
  • Serine / administration & dosage
  • Serine / blood
  • Serine / cerebrospinal fluid
  • Serine / therapeutic use
  • Williams Syndrome / enzymology*


  • Serine
  • Phosphoric Monoester Hydrolases
  • phosphoserine phosphatase