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Early progressive encephalopathy in boys and MECP2 mutations

2006; Lippincott Williams & Wilkins; Volume: 67; Issue: 1 Linguagem: Inglês

10.1212/01.wnl.0000223318.28938.45

1526-632X

Pongkiat Kankirawatana, Helen Leonard, Carolyn Ellaway, J.M. Scurlock, Albert Mansour, Christopher M. Makris, Leon Dure, Michael J. Friez, Jane Lane, Cathy Kiraly‐Borri, Vicki Fabian, Mark R. Davis, J. Brooks Jackson, John Christodoulou, Walter E. Kaufmann, David Ravine, Alan K. Percy,

Epigenetics and DNA Methylation

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.