Sporadic case of fatal encephalopathy with neonatal onset associated with a T158M missense mutation in MECP2.
The case of a male infant with neonatal encephalopathy and a de novo MECP2 mutation is reported. The presenting phenotype of decelerating head growth, spasticity, scoliosis, and central respiratory disturbance raised suspicions of the diagnosis. Neonatal encephalopathy in males is part of a spectrum of disorders caused by MECP2 dysfunction.
Institute of Human Genetics, International Centre for Life, Central Parkway, Newcastle NE1 3BZ, UK. s.a.lynch@ncl.ac.uk
S A
SA
Lynch
S D
SD
Whatley
V
V
Ramesh
S
S
Sinha
D
D
Ravine
D001927:Brain Diseases / Q000235:genetics*; D002868:Chromosomal Proteins, Non-Histone; D004268:DNA-Binding Proteins / Q000235:genetics*; D004562:Electrocardiography; D017809:Fatal Outcome; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D051783:Methyl-CpG-Binding Protein 2; D020125:Mutation, Missense / Q000235:genetics*; D012097:Repressor Proteins
D002868:Chromosomal Proteins, Non-Histone; D004268:DNA-Binding Proteins; C497392:MECP2 protein, human; D051783:Methyl-CpG-Binding Protein 2; D012097:Repressor Proteins