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 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 to a different phenotype. Our results further expand the molecular spectrum and associated clinical phenotype of NDUFB11 defects.
Inactivation of CI due to a de-novo mutation in NDUFBLL gene encoding for a smalland hydrophobic subunit of CI, producesa peculiar phenotype in our patient characterized by lactic acidosis and sideroblastic anemia.
from Genetics via xlomafota13 on Inoreader http://ift.tt/1SnHJ8k