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Journal of Medical Genetics 2008;45:473-478; doi:10.1136/jmg.2008.058271
Copyright © 2008 by the BMJ Publishing Group Ltd.
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MUTATION REPORT

Identification of new mutations in the ETHE1 gene in a cohort of 14 patients presenting with ethylmalonic encephalopathy

R Mineri1, M Rimoldi2, A B Burlina3, S Koskull4, C Perletti5, B Heese6, U von Döbeln7, P Mereghetti8, I Di Meo1, F Invernizzi1, M Zeviani1, G Uziel5, V Tiranti1

1 Unit of Molecular Neurogenetics, Pierfranco and Luisa Mariani Center for the Study of Mitochondrial Disorders in Children, RCCS Foundation Neurological Institute C. Besta, Milan, Italy
2 Unit of Biochemistry and Genetics, IRCCS Foundation Neurological Institute C. Besta, Milan, Italy
3 Division of Metabolic Disorders, Department of Pediatrics, University Hospital, Padova, Italy
4 Klinik für Neuropädiatrie, Behandlungszentrum Vogtareuth, Germany
5 Unit of Child Neurology, IRCCS Foundation Neurological Institute C. Besta, Milan, Italy
6 Division of Pediatric Genetics and Metabolism University of Florida, USA
7 Centre for Inherited Metabolic Diseases, Karolinska University, Stockholm, Sweden
8 Department of Biotechnology and Biosciences, University of Milano-Bicocca, Milan and Department of Chemistry, University of Sassari, Sassari Italy

Correspondence to:
Dr V Tiranti, Unit of Molecular Neurogenetics, IRCCS Foundation Neurological Institute C. Besta, Via Temolo, 4, 20126 Milan, Italy; tiranti{at}istituto-besta.it]

Background: Ethylmalonic encephalopathy (EE) is a rare autosomal recessive metabolic disorder characterised by progressive encephalopathy, recurrent petechiae, acrocyanosis and chronic diarrhoea, with a fatal outcome in early in life.

Methods: 14 patients with EE were investigated for mutations in the ETHE1 gene.

Results: Of the 14 patients, 5 were found to carry novel mutations.

Conclusions: This work expands our knowledge of the causative mutations of EE.






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