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July 10, 2006

Early progressive encephalopathy in boys and MECP2 mutations

P. Kankirawatana, MD, H. Leonard, MBChB, C. Ellaway, PhD, J. Scurlock, MBBS, A. Mansour, PhD, C. M. Makris, MD, L. S. Dure, IV, MD, M. Friez, PhD, J. Lane, RN, BSN, C. Kiraly-Borri, MD, V. Fabian, MBBCh, M. Davis, PhD, J. Jackson, BSc, J. Christodoulou, PhD, W. E. Kaufmann, MD, D. Ravine, DM, and A. K. Percy, MDAuthors Info & Affiliations
July 11, 2006 issue
67 (1) 164-166
https://doi.org/10.1212/01.wnl.0000223318.28938.45
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Abstract

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.

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Published In

Neurology®
Volume 67 • Number 1 • July 11, 2006
Pages: 164-166

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© 2006.

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Published online: July 10, 2006
Published in print: July 11, 2006

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Authors

Affiliations & Disclosures

P. Kankirawatana, MD
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.
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H. Leonard, MBChB
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.
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C. Ellaway, PhD
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.
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J. Scurlock, MBBS
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.
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A. Mansour, PhD
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.
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C. M. Makris, MD
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.
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L. S. Dure, IV, MD
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.
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M. Friez, PhD
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.
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J. Lane, RN, BSN
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.
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C. Kiraly-Borri, MD
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.
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V. Fabian, MBBCh
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.
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M. Davis, PhD
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.
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J. Jackson, BSc
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.
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J. Christodoulou, PhD
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.
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W. E. Kaufmann, MD
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.
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D. Ravine, DM
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.
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A. K. Percy, MD
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.
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Notes

Address correspondence and reprint requests to Dr. Alan K. Percy, CIRC 320E, 1530 3rd Avenue South, Birmingham, AL 35294-0021; e-mail: [email protected]

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