UQCRC2 mutation in a patient with mitochondrial complex III deficiency causing recurrent liver failure, lactic acidosis and hypoglycemia

An isolated mitochondrial complex III (CIII) defect constitutes a rare cause of mitochondrial disorder. Here we present the second case involving UQCRC2 gene, which encodes core protein 2, one of the 11 structural subunits of CIII. The patient has the same mutation (c.547C>T; p.Arg183Trp) as the...

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Bibliographic Details
Published in:Journal of human genetics 2017-07, Vol.62 (7), p.729-731
Main Authors: Gaignard, Pauline, Eyer, Didier, Lebigot, Elise, Oliveira, Christophe, Therond, Patrice, Boutron, Audrey, Slama, Abdelhamid
Format: Article
Language:English
Subjects:
Acidosis
Acidosis, Lactic - genetics
Child
Child, Preschool
Core protein
Electron Transport Complex III - deficiency
Electron Transport Complex III - genetics
Fibroblasts - pathology
Humans
Hypoglycemia
Infant, Newborn
Lactic acidosis
Liver
Liver Failure
Mitochondria
Mitochondrial Diseases
Mutation
Neonates
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Summary:An isolated mitochondrial complex III (CIII) defect constitutes a rare cause of mitochondrial disorder. Here we present the second case involving UQCRC2 gene, which encodes core protein 2, one of the 11 structural subunits of CIII. The patient has the same mutation (c.547C>T; p.Arg183Trp) as the first case and presented with neonatal lactic acidosis, hypoglycemia and severe episodes of liver failure. Our study expands the few reported cases of CIII deficiency of nuclear origin.
ISSN:1434-5161
1435-232X
DOI:10.1038/jhg.2017.22