Algorithmic Approach for Methyl-CpG Binding Protein 2 (MECP2) Gene Testing in Patients with Neurodevelopmental Disabilities

2012

Warren Sanger
[email protected]
402-559-6328

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.

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

Peer-reviewed publications in scholarly journals Published/In Press

Professionals, Students

[email protected]

N/A