title: A rare MeCP2_e1 mutation first described in a male patient with severe neonatal encephalopathy.
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.
authors.affiliation: Department of Pediatrics, Staten Island University Hospital, Staten Island, New York, New York.
authors.forename: Omri David
authors.initials: OD
authors.lastname: Soffer
authors.affiliation: Department of Pediatrics, Staten Island University Hospital, Staten Island, New York, New York.|Department of Pediatrics and Internal Medicine, State University of New York Health Science Center at Brooklyn, Brooklyn, New York.
authors.forename: Richard
authors.initials: R
authors.lastname: Sidlow
mesh_terms: D005091:Exons / Q000235:genetics; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D008607:Intellectual Disability / Q000235:genetics* / Q000503:physiopathology; D008297:Male; D038901:X-Linked Intellectual Disability / Q000235:genetics* / Q000503:physiopathology; D051783:Methyl-CpG-Binding Protein 2 / Q000235:genetics*; D009154:Mutation; D010641:Phenotype; D015518:Rett Syndrome / Q000235:genetics* / Q000503:physiopathology
chemical_list: D051783:Methyl-CpG-Binding Protein 2
keywords: MECP2; MECP2-related severe neonatal encephalopathy; MECP2_e1; Rett Syndrome; severe neonatal encephalopathy