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

2009 | journal article. A publication with affiliation to the University of Göttingen.

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​A Novel MECP2 Mutation in a Boy with Neonatal Encephalopathy and Facial Dysmorphism​
Juelich, K.; Horn, D.; Burfeind, P. ; Erler, T. & Auber, B.​ (2009) 
The Journal of Pediatrics, 155(1) pp. 140​-143​.​ DOI: https://doi.org/10.1016/j.jpeds.2009.01.035 

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Authors
Juelich, Kristina; Horn, Denise; Burfeind, Peter ; Erler, Thomas; Auber, Bernd
Abstract
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. (J Pediatr 2009; 155:140-3)
Issue Date
2009
Status
published
Publisher
Mosby-elsevier
Journal
The Journal of Pediatrics 
ISSN
1097-6833; 0022-3476

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