Another patient with MECP2 mutation without classic Rett syndrome phenotype.
Rett syndrome and Angelman syndrome are two neurodevelopmental disorders characterized by partial overlapping features. Rett syndrome is frequently caused by a mutation in methyl-CpG-binding protein (MECP2) gene, localized on chromosome Xq28, whereas Angelman syndrome is frequently caused by different genetic anomalies at chromosome 15q11-q13 (deletions, uniparental disomy, imprinting center mutations, ubiquitin E3 ligase [UBE3A] gene mutations). Recently, some patients with a clinical diagnosis of Angelman syndrome were found to have a mutation in MECP2 gene. This report describes another patient with an Angelman-like phenotype and with an MECP2 mutation.
Milani
Donatella
D
Pediatric Department, Istituti Clinici di Perfezionamento, University of Milan, Italy.
Pantaleoni
Chiara
C
D'Arrigo
Stefano
S
Selicorni
Angelo
A
Riva
Daria
D
D017204:Angelman Syndrome / Q000235:genetics* / Q000503:physiopathology*; D002675:Child, Preschool; D002868:Chromosomal Proteins, Non-Histone / Q000235:genetics*; D004268:DNA-Binding Proteins / Q000235:genetics*; D005260:Female; D006801:Humans; D051783:Methyl-CpG-Binding Protein 2; D010641:Phenotype; D017354:Point Mutation; D012097:Repressor Proteins / Q000235:genetics*; D015518:Rett Syndrome / Q000235:genetics* / Q000503:physiopathology*
D002868:Chromosomal Proteins, Non-Histone; D004268:DNA-Binding Proteins; C497392:MECP2 protein, human; D051783:Methyl-CpG-Binding Protein 2; D012097:Repressor Proteins