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

TitleIdentification of new mutations in the ETHE1 gene in a cohort of 14 patients presenting with ethylmalonic encephalopathy.
Publication TypeJournal Article
Year of Publication2008
AuthorsMineri, R, Rimoldi, M, Burlina, AB, Koskull, S, Perletti, C, Heese, B, von Döbeln, U, Mereghetti, P, Di Meo, I, Invernizzi, F, Zeviani, M, Uziel, G, Tiranti, V
JournalJ Med Genet
Volume45
Issue7
Pagination473-8
Date Published2008 Jul
ISSN1468-6244
KeywordsAdolescent, Amino Acid Sequence, Base Sequence, Brain Diseases, Metabolic, Inborn, Carnitine, Child, Child, Preschool, Cohort Studies, DNA, Female, Humans, Infant, Male, Mitochondrial Proteins, Models, Molecular, Molecular Sequence Data, Mutation, Missense, Nucleocytoplasmic Transport Proteins, Polymerase Chain Reaction, Polymorphism, Single Nucleotide, Sequence Alignment
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.

DOI10.1136/jmg.2008.058271
Alternate JournalJ. Med. Genet.
Citation Key10.1136/jmg.2008.058271
PubMed ID18593870
Grant ListGGP07019 / / Telethon / Italy