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Early progressive encephalopathy in boys and MECP2 mutations

From the Department of Pediatrics (Neurology [P.K., L.S.D., A.K.P.], Pulmonary [C.M.M.]), Greenwood Genetic Center (M.F.), Civitan International Research Center (J.L., A.K.P.), University of Alabama at Birmingham; Telethon Institute for Child Health Research (H.L.), Centre for Child Health Research and Western Australian Institute of Medical Research and Centre for Medical Research (V.F., M.D., D.R.), The University of Western Australia, Perth, Western Australia, Australia; Discipline of Paediatrics and Child Health (C.E., A.M., J.C.), University of Sydney, New South Wales, Australia; Western Sydney Genetics Program (C.E., J.J., J.C.), Children’s Hospital at Westmead, Sydney, New South Wales, Australia; Princess Margaret Hospital for Children (J.S., C.K.-B.), Perth, Western Australia, Australia; Center for Genetic Disorders of Cognition and Behavior (W.E.K.), Kennedy Krieger Institute and Johns Hopkins University School of Medicine, Baltimore, MD.

Address correspondence and reprint requests to Dr. Alan K. Percy, CIRC 320E, 1530 3rd Avenue South, Birmingham, AL 35294-0021; e-mail: apercy{at}uab.edu

MECP2 mutations mainly occur in females with Rett syndrome. Mutations have been described in 11 boys with progressive encephalopathy: seven of nine with affected sisters and two de novo. The authors report four de novo occurrences: three pathogenic and one potentially pathogenic. Common features include failure to thrive, respiratory insufficiency, microcephaly, and abnormal motor control. MECP2 mutations should be assessed in boys with progressive encephalopathy and one or more of respiratory insufficiency, abnormal movements or tone, and intractable seizures.

Additional material related to this article can be found on the Neurology Web site. Go to www.neurology.org and scroll down the Table of Contents for the July 11 issue to find the title link for this article.

*These authors contributed equally to this publication.

Supported by NIH grants HD43100-01A1 (H.L.); HD24448 (W.E.K.); HD40301, RR019478, MRRC grant HD38985, and Civitan International Research Center funds (A.P. and J.L.).

Disclosure: The authors report no conflicts of interest.

Received November 1, 2005. Accepted in final form March 16, 2006.

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