Journal article

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

A Torraco, M Bianchi, D Verrigni, V Gelmetti, L Riley, M Niceta, D Martinelli, A Montanari, Y Guo, T Rizza, D Diodato, M Di Nottia, B Lucarelli, F Sorrentino, F Piemonte, S Francisci, M Tartaglia, EM Valente, C Dionisi-Vici, J Christodoulou Show all

CLINICAL GENETICS | WILEY | Published : 2017


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 ph..

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Awarded by Telethon Grant

Awarded by Italian Ministry of Health

Awarded by Australian NHMRC

Funding Acknowledgements

This work received financial support from the Telethon Grant GGP11011, the Italian Ministry of Health (GR2010-2316392), and the Italian Association of Mitochondrial Disease Patients and Families (Mitocon). This research was also supported by Australian NHMRC grant 1026891 to J. C., and we also gratefully acknowledge donations to J. C. by the Crane and Perkins families.