title: Early progressive encephalopathy in boys and MECP2 mutations.
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.
authors.affiliation: Department of Pediatrics, University of Alabama at Birmingham, USA.
authors.forename: P
authors.initials: P
authors.lastname: Kankirawatana
authors.forename: H
authors.initials: H
authors.lastname: Leonard
authors.forename: C
authors.initials: C
authors.lastname: Ellaway
authors.forename: J
authors.initials: J
authors.lastname: Scurlock
authors.forename: A
authors.initials: A
authors.lastname: Mansour
authors.forename: C M
authors.initials: CM
authors.lastname: Makris
authors.forename: L S
authors.initials: LS
authors.lastname: Dure
authors.forename: M
authors.initials: M
authors.lastname: Friez
authors.forename: J
authors.initials: J
authors.lastname: Lane
authors.forename: C
authors.initials: C
authors.lastname: Kiraly-Borri
authors.forename: V
authors.initials: V
authors.lastname: Fabian
authors.forename: M
authors.initials: M
authors.lastname: Davis
authors.forename: J
authors.initials: J
authors.lastname: Jackson
authors.forename: J
authors.initials: J
authors.lastname: Christodoulou
authors.forename: W E
authors.initials: WE
authors.lastname: Kaufmann
authors.forename: D
authors.initials: D
authors.lastname: Ravine
authors.forename: A K
authors.initials: AK
authors.lastname: Percy
mesh_terms: D002540:Cerebral Cortex / Q000473:pathology; D002675:Child, Preschool; D004252:DNA Mutational Analysis; D006801:Humans; D007223:Infant; D008279:Magnetic Resonance Imaging / Q000379:methods; D008297:Male; D051783:Methyl-CpG-Binding Protein 2 / Q000235:genetics*; D009154:Mutation; D015518:Rett Syndrome / Q000235:genetics* / Q000473:pathology / Q000503:physiopathology
chemical_list: D051783:Methyl-CpG-Binding Protein 2