A novel mutation in NDUFB11 unveils a new clinical phenotype associated with lactic acidosis and sideroblastic anemia

Clin Genet. 2017 Mar;91(3):441-447. doi: 10.1111/cge.12790. Epub 2016 May 25.

Abstract

NDUFB11, a component of mitochondrial complex I, is a relatively small integral membrane protein, belonging to the "supernumerary" group of subunits, but proved to be absolutely essential for the assembly of an active complex I. Mutations in the X-linked nuclear-encoded NDUFB11 gene have recently been discovered in association with two distinct phenotypes, i.e. microphthalmia with linear skin defects and histiocytoid cardiomyopathy. We report on a male with complex I deficiency, caused by a de novo mutation in NDUFB11 and displaying early-onset sideroblastic anemia as the unique feature. This is the third report that describes a mutation in NDUFB11, but all are associated with a different phenotype. Our results further expand the molecular spectrum and associated clinical phenotype of NDUFB11 defects.

Keywords: NDUFB11; OXPHOS; mitochondrial disease; sideroblastic anemia.

Publication types

  • Case Reports

MeSH terms

  • Acidosis, Lactic / complications
  • Acidosis, Lactic / genetics*
  • Acidosis, Lactic / physiopathology
  • Anemia, Sideroblastic / complications
  • Anemia, Sideroblastic / genetics*
  • Anemia, Sideroblastic / physiopathology
  • Child
  • DNA, Mitochondrial / genetics
  • Electron Transport Complex I / deficiency
  • Electron Transport Complex I / genetics*
  • Genetic Predisposition to Disease
  • Humans
  • Male
  • Microphthalmos / genetics*
  • Microphthalmos / physiopathology
  • Mutation
  • Pedigree
  • Phenotype
  • Tyrosine-tRNA Ligase

Substances

  • DNA, Mitochondrial
  • NDUFB11 protein, human
  • Tyrosine-tRNA Ligase
  • Electron Transport Complex I