A rare MeCP2_e1 mutation first described in a male patient with severe neonatal encephalopathy

Am J Med Genet A. 2016 Jul;170(7):1881-3. doi: 10.1002/ajmg.a.37665. Epub 2016 Apr 19.

Abstract

Specific mutations in MECP2 cause Rett syndrome (RTT) in females whereas other mutations in the same gene cause several other syndromes in males, including X-linked intellectual disability (with and without spasticity) (OMIM 300055) and X-linked intellectual disability due to increased dosage of MECP2 (OMIM 300260). Males can also manifest an entity known as MECP2-related severe neonatal encephalopathy whose mutations are identical to those in females with RTT. We describe here the first case of MECP2-related severe neonatal encephalopathy caused by a mutation in exon one of MECP2, a mutation rarely identified in females with RTT. © 2016 Wiley Periodicals, Inc.

Keywords: MECP2; MECP2-related severe neonatal encephalopathy; MECP2_e1; Rett Syndrome; severe neonatal encephalopathy.

MeSH terms

  • Exons / genetics
  • Female
  • Humans
  • Infant, Newborn
  • Intellectual Disability / genetics*
  • Intellectual Disability / physiopathology
  • Male
  • Mental Retardation, X-Linked / genetics*
  • Mental Retardation, X-Linked / physiopathology
  • Methyl-CpG-Binding Protein 2 / genetics*
  • Mutation
  • Phenotype
  • Rett Syndrome / genetics*
  • Rett Syndrome / physiopathology

Substances

  • Methyl-CpG-Binding Protein 2

Supplementary concepts

  • Encephalopathy, Neonatal Severe, Due To Mecp2 Mutations