A missense mutation, p.V132G, in the X-linked spermine synthase gene (SMS) causes Snyder-Robinson syndrome.

@article{BecerraSolano2009AMM,
  title={A missense mutation, p.V132G, in the X-linked spermine synthase gene (SMS) causes Snyder-Robinson syndrome.},
  author={Luis Eduardo Becerra-Solano and Julia Butler and Gema Casta{\~n}eda-Cisneros and Diane E. McCloskey and Xueqing Wang and Anthony E. Pegg and Charles E. Schwartz and Jos{\'e} S{\'a}nchez-Corona and Jos{\'e} El{\'i}as Garc{\'i}a-Ortiz},
  journal={American journal of medical genetics. Part A},
  year={2009},
  volume={149A 3},
  pages={328-35}
}
Snyder-Robinson syndrome (SRS, OMIM 309583) is a rare X-linked syndrome characterized by mental retardation, marfanoid habitus, skeletal defects, osteoporosis, and facial asymmetry. Linkage analysis localized the related gene to Xp21.3-p22.12, and a G-to-A transition at point +5 of intron 4 of the spermine synthase gene, which caused truncation of the SMS protein and loss of enzyme activity, was identified in the original family. Here we describe another family with Snyder-Robinson syndrome in… CONTINUE READING

From This Paper

Topics from this paper.
24 Citations
0 References
Similar Papers

Citations

Publications citing this paper.
Showing 1-10 of 24 extracted citations

Similar Papers

Loading similar papers…