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 (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.
De Meirleir
Linda
L
AZK-VUB Department of Pediatric Neurology, Brussels, Belgium. linda.demeirleir@az.vub.ac.be
Seneca
Sara
S
Damis
Eliane
E
Sepulchre
Brigitte
B
Hoorens
Anne
A
Gerlo
Erik
E
García Silva
M Teres
MT
Hernandez
Elena Martín
EM
Lissens
Willy
W
Van Coster
Rudy
R
D000074183:ATPases Associated with Diverse Cellular Activities; D018389:Codon, Nonsense; D014450:Electron Transport Complex III / Q000172:deficiency* / Q000235:genetics*; D017809:Fatal Outcome; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D008099:Liver / Q000196:embryology / Q000473:pathology; D008297:Male; D008854:Microscopy, Electron; D009154:Mutation; D020125:Mutation, Missense; D017422:Sequence Analysis, DNA
C435491:BCS1L protein, human; D018389:Codon, Nonsense; D000074183:ATPases Associated with Diverse Cellular Activities; D014450:Electron Transport Complex III