A novel MECP2 mutation in a boy with neonatal encephalopathy and facial dysmorphism.
Methly-CpG-binding protein 2 (MECP2) mutations cause Rett syndrome in females. Here we report on a male infant with neonatal encephalopathy, myoclonic jerks, and irregular breathing patterns caused by a novel frameshift mutation in the MECP2 gene. In addition he has facial dysmorphisms previously not described in these patients.
Jülich
Kristina
K
Department of Pediatric Neurology, Charité-University Medical Center, Berlin, Germany. kristina.juelich@charite.de
Horn
Denise
D
Burfeind
Peter
P
Erler
Thomas
T
Auber
Bernd
B
D019465:Craniofacial Abnormalities / Q000235:genetics*; D002658:Developmental Disabilities / Q000235:genetics; D016368:Frameshift Mutation; D006801:Humans; D007223:Infant; D008297:Male; D051783:Methyl-CpG-Binding Protein 2 / Q000235:genetics*; D008831:Microcephaly / Q000235:genetics*; D009123:Muscle Hypotonia / Q000235:genetics; D017286:Polysomnography; D015518:Rett Syndrome / Q000235:genetics*
C497392:MECP2 protein, human; D051783:Methyl-CpG-Binding Protein 2