Document Detail

Clinical and diagnostic characteristics of complex III deficiency due to mutations in the BCS1L gene.
MedLine Citation:
PMID:  12910490     Owner:  NLM     Status:  MEDLINE    
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.
Linda De Meirleir; Sara Seneca; Eliane Damis; Brigitte Sepulchre; Anne Hoorens; Erik Gerlo; M Teres García Silva; Elena Martín Hernandez; Willy Lissens; Rudy Van Coster
Publication Detail:
Type:  Case Reports; Journal Article; Research Support, Non-U.S. Gov't    
Journal Detail:
Title:  American journal of medical genetics. Part A     Volume:  121A     ISSN:  1552-4825     ISO Abbreviation:  Am. J. Med. Genet. A     Publication Date:  2003 Aug 
Date Detail:
Created Date:  2003-08-11     Completed Date:  2004-04-28     Revised Date:  2008-05-21    
Medline Journal Info:
Nlm Unique ID:  101235741     Medline TA:  Am J Med Genet A     Country:  United States    
Other Details:
Languages:  eng     Pagination:  126-31     Citation Subset:  IM    
Copyright Information:
Copyright 2003 Wiley-Liss, Inc.
AZK-VUB Department of Pediatric Neurology, Brussels, Belgium.
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MeSH Terms
Codon, Nonsense
Electron Transport Complex III / deficiency*,  genetics*
Fatal Outcome
Infant, Newborn
Liver / embryology,  pathology
Microscopy, Electron
Mutation, Missense
Sequence Analysis, DNA
Reg. No./Substance:
0/BCS1L protein, human; 0/Codon, Nonsense; EC Transport Complex III

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