Identification of new mutations in the ETHE1 gene in a cohort of 14 patients presenting with ethylmalonic encephalopathy.
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.
Mineri
R
R
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.
Rimoldi
M
M
Burlina
A B
AB
Koskull
S
S
Perletti
C
C
Heese
B
B
von Döbeln
U
U
Mereghetti
P
P
Di Meo
I
I
Invernizzi
F
F
Zeviani
M
M
Uziel
G
G
Tiranti
V
V
D000293:Adolescent; D000595:Amino Acid Sequence; D001483:Base Sequence; D020739:Brain Diseases, Metabolic, Inborn / Q000235:genetics* / Q000378:metabolism; D002331:Carnitine / Q000031:analogs & derivatives / Q000378:metabolism; D002648:Child; D002675:Child, Preschool; D015331:Cohort Studies; D004247:DNA / Q000737:chemistry / Q000235:genetics; D005260:Female; D006801:Humans; D007223:Infant; D008297:Male; D024101:Mitochondrial Proteins / Q000235:genetics*; D008958:Models, Molecular; D008969:Molecular Sequence Data; D020125:Mutation, Missense; D029543:Nucleocytoplasmic Transport Proteins / Q000235:genetics*; D016133:Polymerase Chain Reaction; D020641:Polymorphism, Single Nucleotide; D016415:Sequence Alignment
C483228:ETHE1 protein, human; D024101:Mitochondrial Proteins; D029543:Nucleocytoplasmic Transport Proteins; C116917:acylcarnitine; D004247:DNA; D002331:Carnitine