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  • New SMS mutation leads to a striking reduction in spermine synthase protein function and a severe form of Snyder–Robinson X-linked recessive mental retardation syndrome

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New SMS mutation leads to a striking reduction in spermine synthase protein function and a severe form of Snyder–Robinson X-linked recessive mental retardation syndrome
  1. G de Alencastro1,
  2. D E McCloskey2,
  3. S E Kliemann3,
  4. C M C Maranduba1,
  5. A E Pegg2,
  6. X Wang2,
  7. D R Bertola4,
  8. C E Schwartz5,
  9. M R Passos-Bueno1,
  10. A L Sertié1
  1. 1
    Centro de Estudos do Genoma Humano, Departamento de Genética e Biologia Evolutiva, Instituto de Biociências, Universidade de São Paulo, Brazil
  2. 2
    Department of Cellular and Molecular Pathology, Penn State University College of Medicine, Hershey, Pennsylvania, USA
  3. 3
    Associação Cruz Verde, São Paulo, Brazil
  4. 4
    Instituto da Criança do Hospital das Clínicas, Faculdade de Medicina, USP, São Paulo, Brazil
  5. 5
    J.C. Self Research Institute of Human Genetics, Greenwood Genetic Center, Greenwood, South Carolina, USA
  1. Dr A Laurato Sertié, Rua do Matão 277, Depto. Genética e Biologia Evolutiva, Instituto de Biociências, USP, São Paulo, SP, 05508-900, Brazil; asertie{at}hotmail.com

Abstract

We report the identification of a novel mutation at a highly conserved residue within the N-terminal region of spermine synthase (SMS) in a second family with Snyder–Robinson X-linked mental retardation syndrome (OMIM 309583). This missense mutation, p.G56S, greatly reduces SMS activity and leads to severe epilepsy and cognitive impairment. Our findings contribute to a better delineation and expansion of the clinical spectrum of Snyder–Robinson syndrome, support the important role of the N-terminus in the function of the SMS protein, and provide further evidence for the importance of SMS activity in the development of intellectual processing and other aspects of human development.

https://doi.org/10.1136/jmg.2007.056713

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    Footnotes

    • Funding: This work was supported by grants from Fundação de Amparo à Pesquisa do Estado de São Paulo (FAPESP) and Conselho Nacional de Desenvolvimento Científico e Tecnológico (CNPq), NICHD grant (HD26202) to CES, NIH grant (GM-26290) to AEP and, in part, by a grant from the South Carolina Department of Disabilities and Special Needs (SCDDSN).

    • Competing interests: None declared.

    • Patient consent: Obtained.

    • Ethics approval: The study was approved by the research ethics committee of the Institute of Biosciences, University of São Paulo, Brazil.