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

R. Mineri, M. Rimoldi, A. B. Burlina, S. Koskull, C. Perletti, B. Heese, U. Von Döbeln, P. Mereghetti, I. Di Meo, F. Invernizzi, M. Zeviani, G. Uziel, V. Tiranti

Research output: Contribution to journalArticlepeer-review

Abstract

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.

Original languageEnglish
Pages (from-to)473-478
Number of pages6
JournalJournal of Medical Genetics
Volume45
Issue number7
DOIs
Publication statusPublished - Jul 2008

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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