title: Diagnostic screening for spermine synthase deficiency by liquid chromatography tandem mass spectrometry.
abstract: BACKGROUND
  Snyder-Robinson syndrome is an X-linked genetic disorder characterized by intellectual disability, facial asymmetry, thickened lower lip, long hands with hyper extendable fingers, slow speech, and hyposcoliosis. The disorder is caused by a mutation in the spermine synthase (SMS) gene. The SMS gene encodes an enzyme involved in polyamine metabolism. Specifically, individuals with Snyder-Robinson have lack or have diminished capability to covert spermidine to spermine.
  
  
  METHODS
  We developed a liquid chromatography tandem mass spectrometry (LC-MS/MS) based screen for Snyder-Robinson syndrome.
  
  
  RESULTS
  Since individuals with Snyder-Robinson syndrome have diminished capacity to convert spermidine to spermine, we utilize this characteristic as a screening metric. Spermine to spermidine ratios were measured by LC-MS/MS in both normal controls and individuals with Snyder-Robinson syndrome. Polyamine ratios in subjects with Snyder-Robinson syndrome (n=20) were significantly different from controls (n=11) and carriers (n=5), with p values of 0.0001 and 0.0075, respectively.
  
  
  CONCLUSIONS
  We developed an effective LC-MS/MS diagnostic test for Snyder-Robinson syndrome.
authors.affiliation: South Carolina Center for the Treatment of Genetic Disorders, Biochemical Genetics Laboratory, Greenwood Genetic Center, Greenwood, SC, United States.
authors.forename: John
authors.initials: J
authors.lastname: Sowell
authors.forename: Joy
authors.initials: J
authors.lastname: Norris
authors.forename: Kelly
authors.initials: K
authors.lastname: Jones
authors.forename: Charles
authors.initials: C
authors.lastname: Schwartz
authors.forename: Tim
authors.initials: T
authors.lastname: Wood
mesh_terms: D002851:Chromatography, High Pressure Liquid; D002853:Chromatography, Liquid / Q000379:methods*; D006801:Humans; D038901:X-Linked Intellectual Disability / Q000175:diagnosis*; D013097:Spermine Synthase / Q000235:genetics*; D053719:Tandem Mass Spectrometry / Q000379:methods*
chemical_list: D013097:Spermine Synthase