Article Text

other Versions

PDF
New SMS mutation leads to a striking reduction in spermine synthase protein function and a severe form of Snyder-Robinson XLMR syndrome.
  1. Gustavo Alencastro (gus_alencastro{at}hotmail.com)
  1. Centro de Estudos do Genoma Humano, Instituto de Bioc, Brazil
    1. Diane E. McCloskey
    1. Department of Cellular and Molecular Pathology, Penn State University College of Medicine, Hershey., United States
      1. Susana E. Kliemann (skliemann{at}hotmail.com)
      1. Associação Cruz Verde, São Paulo, Brazil
        1. Carlos M. Maranduba (carlosmaranduba{at}yahoo.com.br)
        1. Centro de Estudos do Genoma Humano, Instituto de Bioc, Brazil
          1. Anthony E. Pegg (aep1{at}psu.edu)
          1. Department of Cellular and Molecular Pathology, Penn State University College of Medicine, Hershey, United States
            1. Xiaojing Wang
            1. Department of Cellular and Molecular Pathology, Penn State University College of Medicine, Hershey, United States
              1. Débora R. Bertola (deborarb{at}icr.hcnet.usp.br)
              1. Instituto da Criança do Hospital das Clínicas, Faculdade de Medicina, USP, São, United States
                1. Charles E. Schwartz (ceschwartz{at}ggc.org)
                1. Greenwood Genetic Center, J.C. Self Research Institute of Human Genetics, Greenwood, United States
                  1. Maria Rita Passos-Bueno (passos{at}ib.usp.br)
                  1. Centro de Estudos do Genoma Humano, Departamento de Genética e Biologia Evolutiva, Instituto, Brazil
                    1. Andréa L. Sertié (asertie{at}hotmail.com)
                    1. Centro de Estudos do Genoma Humano, Departamento de Genética e Biologia Evolutiva, Instituto, Brazil

                      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.

                      Statistics from Altmetric.com

                      Request permissions

                      If you wish to reuse any or all of this article please use the link below which will take you to the Copyright Clearance Center’s RightsLink service. You will be able to get a quick price and instant permission to reuse the content in many different ways.