A novel mutation in BCS1L associated with deafness, tubulopathy, growth retardation and microcephaly.
Christopher B JacksonM F BauerA SchallerU KotzaeridouA FerrariniD HahnH ChehadeF BarbeyC TranS GallatiA HaeberliS EggimannL BonaféJ-M NuofferPublished in: European journal of pediatrics (2015)
• Mutations in BCS1L cause mitochondrial complex III deficiencies. • Phenotypic presentations of defective BCS1L range from Bjornstad to neonatal GRACILE syndrome. What is New: • Description of a novel homozygous mutation in BCS1L with transient neonatal acidosis and persistent de Toni-Debré-Fanconi-type tubulopathy. • The long survival of patients with phenotypic presentation of severe complex III deficiency is uncommon.