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

L. E. Becerra-Solano, J. Butler, G. Castañeda-Cisneros, D. E. McCloskey, X. Wang, Anthony Pegg, C. E. Schwartz, J. Sánchez-Corona, J. E. García-Ortiz

Research output: Contribution to journalArticle

30 Citations (Scopus)

Abstract

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 two Mexican brothers and a novel mutation (c.496T>G) in the exon 5 of the SMS gene confirming its involvement in this rare X-linked mental retardation syndrome.

Original languageEnglish (US)
Pages (from-to)328-335
Number of pages8
JournalAmerican Journal of Medical Genetics, Part A
Volume149
Issue number3
DOIs
StatePublished - Mar 1 2009

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Spermine Synthase
Missense Mutation
X-Linked Mental Retardation
Genes
Facial Asymmetry
Genetic Databases
Introns
Osteoporosis
Exons
Mutation
Snyder Robinson syndrome
Enzymes
Proteins

All Science Journal Classification (ASJC) codes

  • Genetics
  • Genetics(clinical)

Cite this

Becerra-Solano, L. E., Butler, J., Castañeda-Cisneros, G., McCloskey, D. E., Wang, X., Pegg, A., ... García-Ortiz, J. E. (2009). A missense mutation, p.V132G, in the X-linked spermine synthase gene (SMS) causes Snyder-Robinson syndrome. American Journal of Medical Genetics, Part A, 149(3), 328-335. https://doi.org/10.1002/ajmg.a.32641
Becerra-Solano, L. E. ; Butler, J. ; Castañeda-Cisneros, G. ; McCloskey, D. E. ; Wang, X. ; Pegg, Anthony ; Schwartz, C. E. ; Sánchez-Corona, J. ; García-Ortiz, J. E. / A missense mutation, p.V132G, in the X-linked spermine synthase gene (SMS) causes Snyder-Robinson syndrome. In: American Journal of Medical Genetics, Part A. 2009 ; Vol. 149, No. 3. pp. 328-335.
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Becerra-Solano, LE, Butler, J, Castañeda-Cisneros, G, McCloskey, DE, Wang, X, Pegg, A, Schwartz, CE, Sánchez-Corona, J & García-Ortiz, JE 2009, 'A missense mutation, p.V132G, in the X-linked spermine synthase gene (SMS) causes Snyder-Robinson syndrome', American Journal of Medical Genetics, Part A, vol. 149, no. 3, pp. 328-335. https://doi.org/10.1002/ajmg.a.32641

A missense mutation, p.V132G, in the X-linked spermine synthase gene (SMS) causes Snyder-Robinson syndrome. / Becerra-Solano, L. E.; Butler, J.; Castañeda-Cisneros, G.; McCloskey, D. E.; Wang, X.; Pegg, Anthony; Schwartz, C. E.; Sánchez-Corona, J.; García-Ortiz, J. E.

In: American Journal of Medical Genetics, Part A, Vol. 149, No. 3, 01.03.2009, p. 328-335.

Research output: Contribution to journalArticle

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