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.
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: Zhe Zhang; Joy Norris; Vera Kalscheuer; Tim Wood; Lin Wang; Charles Schwartz; Emil Alexov; Hilde Van Esch Journal: Hum Mol Genet Date: 2013-05-21 Impact factor: 6.150
Authors: Jessica S Albert; Nisan Bhattacharyya; Lynne A Wolfe; William P Bone; Valerie Maduro; John Accardi; David R Adams; Charles E Schwartz; Joy Norris; Tim Wood; Rachel I Gafni; Michael T Collins; Laura L Tosi; Thomas C Markello; William A Gahl; Cornelius F Boerkoel Journal: Orphanet J Rare Dis Date: 2015-03-07 Impact factor: 4.123