A Novel MECP2 Mutation in a Boy with Neonatal Encephalopathy and Facial Dysmorphism

Methly-CpG-binding protein 2 ( MECP2 ) mutations cause Rett syndrome in females. Here we report on a male infant with neonatal encephalopathy, myoclonic jerks, and irregular breathing patterns caused by a novel frameshift mutation in the MECP2 gene. In addition he has facial dysmorphisms previously...

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Veröffentlicht in:	The Journal of pediatrics 2009-07, Vol.155 (1), p.140-143
Hauptverfasser:	Jülich, Kristina, MD, Horn, Denise, MD, Burfeind, Peter, PhD, Erler, Thomas, MD, Auber, Bernd, MD
Format:	Artikel
Sprache:	eng
Schlagworte:	Biological and medical sciences Craniofacial Abnormalities - genetics Developmental Disabilities - genetics Frameshift Mutation General aspects Humans Infant Male Medical sciences Methyl-CpG-Binding Protein 2 - genetics Microcephaly - genetics Muscle Hypotonia - genetics Pediatrics Polysomnography Rett Syndrome - genetics
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Beschreibung
Zusammenfassung:	Methly-CpG-binding protein 2 ( MECP2 ) mutations cause Rett syndrome in females. Here we report on a male infant with neonatal encephalopathy, myoclonic jerks, and irregular breathing patterns caused by a novel frameshift mutation in the MECP2 gene. In addition he has facial dysmorphisms previously not described in these patients.
ISSN:	0022-3476 1097-6833
DOI:	10.1016/j.jpeds.2009.01.035