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Torraco A.,Laboratory of Molecular Medicine Bambino Gesu Childrens Hospital | Bianchi M.,Laboratory of Molecular Medicine Bambino Gesu Childrens Hospital | Verrigni D.,Laboratory of Molecular Medicine Bambino Gesu Childrens Hospital | Gelmetti V.,Neurogenetics Unit | And 13 more authors.
Clinical Genetics | Year: 2016

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. © 2016 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.

Loading Genetic Metabolic Disorders Research Unit Childrens Hospital at Westmead Sydney Australia collaborators
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