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
- 1Unit of Molecular Neurogenetics, Pierfranco and Luisa Mariani Center for the Study of Mitochondrial Disorders in Children, RCCS Foundation Neurological Institute C. Besta, Milan, Italy
- 2Unit of Biochemistry and Genetics, IRCCS Foundation Neurological Institute C. Besta, Milan, Italy
- 3Division of Metabolic Disorders, Department of Pediatrics, University Hospital, Padova, Italy
- 4Klinik für Neuropädiatrie, Behandlungszentrum Vogtareuth, Germany
- 5Unit of Child Neurology, IRCCS Foundation Neurological Institute C. Besta, Milan, Italy
- 6Division of Pediatric Genetics and Metabolism University of Florida, USA
- 7Centre for Inherited Metabolic Diseases, Karolinska University, Stockholm, Sweden
- 8Department of Biotechnology and Biosciences, University of Milano-Bicocca, Milan and Department of Chemistry, University of Sassari, Sassari Italy
- Dr V Tiranti, Unit of Molecular Neurogenetics, IRCCS Foundation Neurological Institute C. Besta, Via Temolo, 4, 20126 Milan, Italy;
- Received 27 February 2008
- Revised 2 April 2008
- Accepted 3 April 2008
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.
Funding: This work was supported by Fondazione Pierfranco e Luisa Mariani; MITOCIRCLE and EUMITOCOMBAT grants from the European Union Framework Program 6, FP6; Telethon-Italy (grant n. GGP07019).
Competing interests: None.