The authors have no conflict of interest to declare.
Snyder–Robinson syndrome: A novel nonsense mutation in spermine synthase and expansion of the phenotype
Article first published online: 29 JUL 2013
Copyright © 2013 Wiley Periodicals, Inc.
American Journal of Medical Genetics Part A
Volume 161, Issue 9, pages 2316–2320, September 2013
How to Cite
2013. Snyder–Robinson syndrome: A novel nonsense mutation in spermine synthase and expansion of the phenotype. Am J Med Genet Part A 161A:2316–2320., , , , , , , , .
Dedicated to the memory of Ethan Francis Schwartz (1996–1998).
- Issue published online: 14 AUG 2013
- Article first published online: 29 JUL 2013
- Manuscript Accepted: 27 MAY 2013
- Manuscript Received: 15 FEB 2013
- South Carolina Department of Disabilities and Special Needs. Grant Number: 2013-45
Vol. 164, Issue 4, 1083, Article first published online: 17 MAR 2014
- Snyder–Robinson syndrome;
- X-linked mental retardation;
- SMS gene;
- spermine synthase
Snyder–Robinson syndrome is a rare form of X-linked intellectual disability caused by mutations in the spermine synthase (SMS) gene, and characterized by intellectual disability, thin habitus with diminished muscle mass, osteoporosis, kyphoscoliosis, facial dysmorphism (asymmetry, full lower lip), long great toes, and nasal or dysarthric speech. Physical signs seem to evolve from childhood to adulthood. We describe the first Italian patient with Snyder–Robinson syndrome and a novel nonsense mutation in SMS (c.200G>A; p.G67X). Apart from the typical features of the syndrome, the index patient presented with an ectopic right kidney and epilepsy from the first year of age that was characterized by focal motor seizures and negative myoclonus. The clinical and molecular evaluation of this family and the review of the literature expand the phenotype of Snyder–Robinson syndrome to include myoclonic or myoclonic-like seizures (starting even in the first years of life) and renal abnormalities in affected males. © 2013 Wiley Periodicals, Inc.