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

Omri David Soffer, Richard Sidlow

Research output: Contribution to journalArticlepeer-review

5 Scopus citations

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.

Original languageEnglish (US)
Pages (from-to)1881-1883
Number of pages3
JournalAmerican Journal of Medical Genetics, Part A
Volume170
Issue number7
DOIs
StatePublished - Jul 1 2016
Externally publishedYes

Keywords

  • MECP2
  • MECP2-related severe neonatal encephalopathy
  • MECP2_e1
  • Rett Syndrome
  • severe neonatal encephalopathy

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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