Clinical and diagnostic characteristics of complex III deficiency due to mutations in the BCS1L gene

We investigated two siblings of a Spanish family presenting with congenital lactic acidosis. They had severe failure to thrive, liver dysfunction, and renal tubulopathy. An isolated biochemical complex III deficiency was detected in liver. A search for mutations in the human bc1 synthesis like (BCS1...

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Bibliographic Details
Published in:American journal of medical genetics 2003-08, Vol.121A (2), p.126-131
Main Authors: De Meirleir, Linda, Seneca, Sara, Damis, Eliane, Sepulchre, Brigitte, Hoorens, Anne, Gerlo, Erik, García Silva, M. Teres, Hernandez, Elena Martín, Lissens, Willy, Van Coster, Rudy
Format: Article
Language:English
Subjects:
ATPases Associated with Diverse Cellular Activities
Biological and medical sciences
Chromosome fragility (bloom syndrome, ataxia telangiectasia, fanconi anemia, x-linked mental retardation...)
Codon, Nonsense
congenital lactic acidosis
Electron Transport Complex III - deficiency
Electron Transport Complex III - genetics
Fatal Outcome
Female
Gastroenterology. Liver. Pancreas. Abdomen
General aspects. Genetic counseling
Humans
Infant, Newborn
Liver - embryology
Liver - pathology
liver cholestasis
Liver. Biliary tract. Portal circulation. Exocrine pancreas
Male
Medical genetics
Medical sciences
Microscopy, Electron
mitochondrial encephalopathy
Mutation
Mutation, Missense
Other diseases. Semiology
OXPHOS deficiency
respiratory chain assembly genes
Sequence Analysis, DNA
Toni Fanconi Debré syndrome
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Summary:We investigated two siblings of a Spanish family presenting with congenital lactic acidosis. They had severe failure to thrive, liver dysfunction, and renal tubulopathy. An isolated biochemical complex III deficiency was detected in liver. A search for mutations in the human bc1 synthesis like (BCS1L) gene was undertaken. Direct sequencing revealed a missense mutation R45C and a nonsense mutation R56X, both located in exon 1 of BCS1L. The missense mutation in combination with a loss of function of the second allele is responsible for the isolated complex III deficiency in this family. © 2003 Wiley‐Liss, Inc.
ISSN:1552-4825
0148-7299
1552-4833
1096-8628
DOI:10.1002/ajmg.a.20171