Encyclopedia
Snyder-Robinson syndrome is a condition characterized by intellectual disability, muscle and bone abnormalities, and other problems with development. It occurs exclusively in males.
- genetic conditions
Frequency
Snyder-Robinson syndrome is a rare condition; its prevalence is unknown. About 10 affected families have been identified worldwide.
Causes
Snyder-Robinson syndrome results from mutations in the SMS gene. This gene provides instructions for making an enzyme called spermine synthase. This enzyme is involved in the production of spermine, which is a type of small molecule called a polyamine. Polyamines have many critical functions within cells. Studies suggest that these molecules play roles in cell growth and division, the production of new proteins, the repair of damaged tissues, the function of molecules called ion channels, and the controlled self-destruction of cells (apoptosis). Polyamines appear to be necessary for normal development and function of the brain and other parts of the body.
Mutations in the SMS gene greatly reduce or eliminate the activity of spermine synthase, which decreases the amount of spermine in cells. A shortage of this polyamine clearly impacts normal development, including the development of the brain, muscles, and bones, but it is unknown how it leads to the specific signs and symptoms of Snyder-Robinson syndrome.
Inheritance
This condition is inherited in an X-linked recessive pattern. The gene associated with this condition is located on the X chromosome, which is one of the two sex chromosomes. In males (who have only one X chromosome), one altered copy of the gene in each cell is sufficient to cause the condition. In females (who have two X chromosomes), a mutation would have to occur in both copies of the gene to cause the disorder. No cases of Snyder-Robinson syndrome in females have been reported.
Other Names for This Condition
- mental retardation, X-linked, syndromic, Snyder-Robinson type
- Snyder-Robinson X-linked mental retardation syndrome
- spermine synthase deficiency
- SRS
This entry is adapted from the peer-reviewed paper https://medlineplus.gov/genetics/condition/snyder-robinson-syndrome
References
- Albert JS, Bhattacharyya N, Wolfe LA, Bone WP, Maduro V, Accardi J, Adams DR, Schwartz CE, Norris J, Wood T, Gafni RI, Collins MT, Tosi LL, Markello TC, GahlWA, Boerkoel CF. Impaired osteoblast and osteoclast function characterize theosteoporosis of Snyder - Robinson syndrome. Orphanet J Rare Dis. 2015 Mar7;10:27. doi: 10.1186/s13023-015-0235-8.
- Becerra-Solano LE, Butler J, Castañeda-Cisneros G, McCloskey DE, Wang X, Pegg AE, Schwartz CE, Sánchez-Corona J, García-Ortiz JE. A missense mutation, p.V132G,in the X-linked spermine synthase gene (SMS) causes Snyder-Robinson syndrome. Am J Med Genet A. 2009 Mar;149A(3):328-35. doi: 10.1002/ajmg.a.32641.
- Cason AL, Ikeguchi Y, Skinner C, Wood TC, Holden KR, Lubs HA, Martinez F,Simensen RJ, Stevenson RE, Pegg AE, Schwartz CE. X-linked spermine synthase gene (SMS) defect: the first polyamine deficiency syndrome. Eur J Hum Genet. 2003Dec;11(12):937-44.
- de Alencastro G, McCloskey DE, Kliemann SE, Maranduba CM, Pegg AE, Wang X,Bertola DR, Schwartz CE, Passos-Bueno MR, Sertié AL. New SMS mutation leads to a striking reduction in spermine synthase protein function and a severe form ofSnyder-Robinson X-linked recessive mental retardation syndrome. J Med Genet. 2008Aug;45(8):539-43. doi: 10.1136/jmg.2007.056713.
- Peron A, Spaccini L, Norris J, Bova SM, Selicorni A, Weber G, Wood T, SchwartzCE, Mastrangelo M. Snyder-Robinson syndrome: a novel nonsense mutation inspermine synthase and expansion of the phenotype. Am J Med Genet A. 2013Sep;161A(9):2316-20. doi: 10.1002/ajmg.a.36116.J Med Genet A. 2014 Apr;164A(4):1083.
- Schwartz CE, Wang X, Stevenson RE, Pegg AE. Spermine synthase deficiencyresulting in X-linked intellectual disability (Snyder-Robinson syndrome). MethodsMol Biol. 2011;720:437-45. doi: 10.1007/978-1-61779-034-8_28.
- Zhang Z, Norris J, Kalscheuer V, Wood T, Wang L, Schwartz C, Alexov E, VanEsch H. A Y328C missense mutation in spermine synthase causes a mild form ofSnyder-Robinson syndrome. Hum Mol Genet. 2013 Sep 15;22(18):3789-97. doi:10.1093/hmg/ddt229.
