title: Atypical features in MECP2 P152R-associated Rett syndrome.
abstract: BACKGROUND
  Rett syndrome is a neurodevelopmental disorder that occurs in individuals with a mutation in the X-linked methyl-CpG-binding protein 2 (2MECP2) gene. 2MECP2 mutations produce a high degree of variability in the clinical phenotypes including the classic Rett features of head growth deceleration, psychomotor regression, deviant communicative ability, hand stereotypes, autonomic dysfunction, and seizures. Atypical forms of Rett such as those with preserved speech do not follow these characteristics.
  
  
  METHODS
  We report a 9-year-old girl with atypical Rett (macrocephaly, preserved speech, and psychiatric manifestations) with a 2MECP2 (P152R) mutation that generally is not associated with these clinical signs.
  
  
  CONCLUSIONS
  This case broadens the genotype-phenotype correlation between the P152R mutation 2MECP2-associated Rett syndrome.
authors.affiliation: Department of Neurology, Beth Israel Deaconess Medical Center, Harvard Medical School, Boston, Massachusetts, USA.
authors.forename: Volney
authors.initials: V
authors.lastname: Sheen
authors.forename: Isaac M
authors.initials: IM
authors.lastname: Valencia
authors.forename: Alcy R
authors.initials: AR
authors.lastname: Torres
mesh_terms: D001120:Arginine / Q000235:genetics*; D002648:Child; D005260:Female; D005838:Genotype; D006801:Humans; D051783:Methyl-CpG-Binding Protein 2 / Q000235:genetics*; D010641:Phenotype; D011392:Proline / Q000235:genetics*; D015518:Rett Syndrome / Q000235:genetics* / Q000503:physiopathology
chemical_list: C497392:MECP2 protein, human; D051783:Methyl-CpG-Binding Protein 2; D001120:Arginine; D011392:Proline