MECP2 mutation in non-fatal, non-progressive encephalopathy in a male.
To study the clinical overlap between Rett (RTT) and Angelman syndromes (AS), we screened the MECP2 gene in a cohort of 78 patients diagnosed as possible AS but who showed a normal methylation pattern at the UBE3A locus. MECP2 missense (R106W, G428S), nonsense (R255X, R270X), and frameshift mutations (803 delG) were identified in 6/78 patients including 4/6 female cases consistent with RTT, one female case with progressive encephalopathy of neonatal onset, and one isolated male case with non-fatal, non-progressive encephalopathy of neonatal onset. This study shows that MECP2 mutations can account for a broad spectrum of clinical presentations and raises the difficult issue of the screening of the MECP2 gene in severe encephalopathy in both males and females.
Imessaoudene
B
B
Département de Génétique and INSERM U-393, Hôpital Necker-Enfants Malades, 149 rue de Sèvres, 75743 Paris Cedex 15, France.
Bonnefont
J P
JP
Royer
G
G
Cormier-Daire
V
V
Lyonnet
S
S
Lyon
G
G
Munnich
A
A
Amiel
J
J
D017204:Angelman Syndrome / Q000235:genetics* / Q000473:pathology; D001483:Base Sequence; D001927:Brain Diseases / Q000235:genetics* / Q000473:pathology; D002648:Child; D002675:Child, Preschool; D002868:Chromosomal Proteins, Non-Histone; D004247:DNA / Q000737:chemistry / Q000235:genetics; D004268:DNA-Binding Proteins / Q000235:genetics*; D005192:Family Health; D005260:Female; D006801:Humans; D008297:Male; D051783:Methyl-CpG-Binding Protein 2; D009154:Mutation; D010375:Pedigree; D012097:Repressor Proteins; D017422:Sequence Analysis, DNA
D002868:Chromosomal Proteins, Non-Histone; D004268:DNA-Binding Proteins; C497392:MECP2 protein, human; D051783:Methyl-CpG-Binding Protein 2; D012097:Repressor Proteins; D004247:DNA