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; A. E. Pegg; C. E. Schwartz; J. Sánchez-Corona; J. E. García-Ortiz

doi:10.1002/ajmg.a.32641

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
, A. E. Pegg
, C. E. Schwartz
, J. Sánchez-Corona
, J. E. García-Ortiz

Research output: Contribution to journal › Article › peer-review

50 Scopus citations

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 language	English (US)
Pages (from-to)	328-335
Number of pages	8
Journal	American Journal of Medical Genetics, Part A
Volume	149
Issue number	3
DOIs	https://doi.org/10.1002/ajmg.a.32641
State	Published - Mar 2009

All Science Journal Classification (ASJC) codes

Genetics
Genetics(clinical)

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

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

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.",

author = "Becerra-Solano, \{L. E.\} and J. Butler and G. Casta{\~n}eda-Cisneros and McCloskey, \{D. E.\} and X. Wang and Pegg, \{A. E.\} and Schwartz, \{C. E.\} and J. S{\'a}nchez-Corona and Garc{\'i}a-Ortiz, \{J. E.\}",

year = "2009",

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doi = "10.1002/ajmg.a.32641",

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Becerra-Solano, LE, Butler, J, Castañeda-Cisneros, G, McCloskey, DE, Wang, X, Pegg, AE, 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

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AU - Becerra-Solano, L. E.

AU - Butler, J.

AU - Castañeda-Cisneros, G.

AU - McCloskey, D. E.

AU - Wang, X.

AU - Pegg, A. E.

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AU - Sánchez-Corona, J.

AU - García-Ortiz, J. E.

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AB - 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.

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

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