Algorithmic approach for methyl-CpG binding protein 2 (MECP2) gene testing in patients with neurodevelopmental disabilities

Jennifer N Sanmann, G. Bradley Schaefer, Bruce A. Buehler, Warren G. Sanger

Research output: Contribution to journalReview article

3 Scopus citations

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).

Original languageEnglish (US)
Pages (from-to)346-354
Number of pages9
JournalJournal of Child Neurology
Volume27
Issue number3
DOIs
Publication statusPublished - Mar 1 2012

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Keywords

  • Angelman syndrome
  • Rett syndrome
  • deletion/duplication
  • methyl-CpG binding protein 2 (MECP2)
  • neonatal encephalopathy

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health
  • Clinical Neurology

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