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

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.

• Authors: 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
• Journal: Journal of medical genetics (J Med Genet) Vol. 45 Issue 7 Pg. 473-8 (Jul 2008) ISSN: 1468-6244 [Electronic] England
• PMID: 18593870 (Publication Type: Journal Article, Research Support, Non-U.S. Gov't)

Chemical References

• ETHE1 protein, human
• Mitochondrial Proteins
• Nucleocytoplasmic Transport Proteins
• acylcarnitine
• DNA
• Carnitine

Topics

• Adolescent
• Amino Acid Sequence
• Base Sequence
• Brain Diseases, Metabolic, Inborn (genetics, metabolism)
• Carnitine (analogs & derivatives, metabolism)
• Child
• Child, Preschool
• Cohort Studies
• DNA (chemistry, genetics)
• Female
• Humans
• Infant
• Male
• Mitochondrial Proteins (genetics)
• Models, Molecular
• Molecular Sequence Data
• Mutation, Missense
• Nucleocytoplasmic Transport Proteins (genetics)
• Polymerase Chain Reaction
• Polymorphism, Single Nucleotide
• Sequence Alignment