title: Algorithmic approach for methyl-CpG binding protein 2 (MECP2) gene testing in patients with neurodevelopmental disabilities.
abstract: Methyl-CpG binding protein 2 gene (MECP2) testing is indicated for patients with numerous clinical presentations, including Rett syndrome (classic and atypical), unexplained neonatal encephalopathy, Angelman syndrome, nonspecific mental retardation, autism (females), and an X-linked family history of developmental delay. Because of this complexity, a gender-specific approach for comprehensive MECP2 gene testing is described. Briefly, sequencing of exons 1 to 4 of MECP2 is recommended for patients with a Rett syndrome phenotype, unexplained neonatal encephalopathy, an Angelman syndrome phenotype (with negative 15q11-13 analysis), nonspecific mental retardation, or autism (females). Additional testing for large-scale MECP2 deletions is recommended for patients with Rett syndrome or Angelman syndrome phenotypes (with negative 15q11-13 analysis) following negative sequencing. Alternatively, testing for large-scale MECP2 duplications is recommended for males presenting with mental retardation, an X-linked family history of developmental delay, and a significant proportion of previously described clinical features (particularly a history of recurrent respiratory infections).
authors: Human Genetics Laboratories, University of Nebraska Medical Center and the Munroe-Meyer Institute for Genetics and Rehabilitation, Omaha, NE 68198-5440, USA. jsanmann@unmc.edu
authors: Jennifer N
authors: JN
authors: Sanmann
authors: G Bradley
authors: GB
authors: Schaefer
authors: Bruce A
authors: BA
authors: Buehler
authors: Warren G
authors: WG
authors: Sanger
mesh_terms: D000465:Algorithms; D001927:Brain Diseases / Q000150:complications / Q000235:genetics*; D002884:Chromosomes, Human, Pair 15 / Q000235:genetics; D004252:DNA Mutational Analysis; D002658:Developmental Disabilities / Q000150:complications / Q000235:genetics*; D005091:Exons / Q000235:genetics; D005260:Female; D006801:Humans; D008297:Male; D051783:Methyl-CpG-Binding Protein 2 / Q000235:genetics*; D009154:Mutation / Q000235:genetics*; D012737:Sex Factors
chemical_list: C497392:MECP2 protein, human; D051783:Methyl-CpG-Binding Protein 2