Journal of Medical Genetics 2008;45:539-543
LETTERS TO JMG
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 Centro de Estudos do Genoma Humano, Departamento de Genética e Biologia Evolutiva, Instituto de Biociências, Universidade de São Paulo, Brazil
2 Department of Cellular and Molecular Pathology, Penn State University College of Medicine, Hershey, Pennsylvania, USA
3 Associação Cruz Verde, São Paulo, Brazil
4 Instituto da Criança do Hospital das Clínicas, Faculdade de Medicina, USP, São Paulo, Brazil
5 J.C. Self Research Institute of Human Genetics, Greenwood Genetic Center, Greenwood, South Carolina, USA
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
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 [OMIM] ). 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.
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