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 Volume 67, Number 5, September 12, 2006
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NEUROLOGY 2006;67:867-868
© 2006 American Academy of Neurology
Brief Communications

A novel familial MECP2 mutation in a young boy: Clinical and molecular findings

P. Ventura, MD, R. Galluzzi, MD, S. M. Bacca, MD, R. Giorda, PhD and A. Massagli, MD

From the Department of Neurorehabilitation 2 Psychopathological disturbances in childhood and adolescence (P.V., R.G., S.M.B., A.M.), Scientific Institute "Eugenio Medea" for Research, Hospitalization and Healthcare, Regional Branch of Ostuni (BR), Italy; and Molecular Biology Laboratory (R.G.), Scientific Institute "Eugenio Medea" for Research, Hospitalization and Healthcare, Regional Branch of Bosisio Parini (LC), Italy.

Address correspondence and reprint requests to Dr. Angelo Massagli, Department of Neurorehabilitation 2, Scientific Institute "Eugenio Medea," Regional Branch of Ostuni, Via Dei Colli 7, 72017 Ostuni (BR), Italy; e-mail: address: massagli{at}os.lnf.it

We describe the clinical and molecular findings of a 6-year-old boy carrying a novel missense 964C>T mutation on the MECP2 gene. The patient shows moderate mental retardation with autistic features and epilepsy. His mother is heterozygous for the same mutation.

Disclosure: The authors report no conflicts of interest.

Received November 23, 2005. Accepted in final form April 27, 2006.


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