title: Clinical and diagnostic characteristics of complex III deficiency due to mutations in the BCS1L gene.
abstract: 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.
authors.affiliation: AZK-VUB Department of Pediatric Neurology, Brussels, Belgium. linda.demeirleir@az.vub.ac.be
authors.forename: Linda
authors.initials: L
authors.lastname: De Meirleir
authors.forename: Sara
authors.initials: S
authors.lastname: Seneca
authors.forename: Eliane
authors.initials: E
authors.lastname: Damis
authors.forename: Brigitte
authors.initials: B
authors.lastname: Sepulchre
authors.forename: Anne
authors.initials: A
authors.lastname: Hoorens
authors.forename: Erik
authors.initials: E
authors.lastname: Gerlo
authors.forename: M Teres
authors.initials: MT
authors.lastname: García Silva
authors.forename: Elena Martín
authors.initials: EM
authors.lastname: Hernandez
authors.forename: Willy
authors.initials: W
authors.lastname: Lissens
authors.forename: Rudy
authors.initials: R
authors.lastname: Van Coster
mesh_terms: 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
chemical_list: C435491:BCS1L protein, human; D018389:Codon, Nonsense; D000074183:ATPases Associated with Diverse Cellular Activities; D014450:Electron Transport Complex III