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

Alessandra Torraco; Marzia Bianchi; Daniela Verrigni; Vania Gelmetti; L. Riley; Marcello Niceta; Diego Martinelli; Arianna Montanari; Y. Guo; Teresa Rizza; Daria Diodato; Michela Di Nottia; B. Lucarelli; F. Sorrentino; Fiorella Piemonte; Silvia Francisci; Marco Tartaglia; Enza Maria Valente; Carlo Dionisi Vici; John Christodoulou; Enrico Silvio Bertini; Rosalba Carrozzo

doi:10.1111/cge.12790

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

Alessandra Torraco, Marzia Bianchi, Daniela Verrigni, Vania Gelmetti, L. Riley, Marcello Niceta, Diego Martinelli, Arianna Montanari, Y. Guo, Teresa Rizza, Daria Diodato, Michela Di Nottia, B. Lucarelli, F. Sorrentino, Fiorella Piemonte, Silvia Francisci, Marco Tartaglia, Enza Maria Valente, Carlo Dionisi Vici, John ChristodoulouEnrico Silvio Bertini, Rosalba Carrozzo

Research output: Contribution to journal › Article › peer-review

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.

Original language	English
Journal	Clinical Genetics
DOIs	https://doi.org/10.1111/cge.12790
Publication status	Accepted/In press - 2016

Keywords

Mitochondrial disease
NDUFB11
OXPHOS
Sideroblastic anemia

ASJC Scopus subject areas

Genetics(clinical)
Genetics

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10.1111/cge.12790

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Torraco, A., Bianchi, M., Verrigni, D., Gelmetti, V., Riley, L., Niceta, M., Martinelli, D., Montanari, A., Guo, Y., Rizza, T., Diodato, D., Di Nottia, M., Lucarelli, B., Sorrentino, F., Piemonte, F., Francisci, S., Tartaglia, M., Valente, E. M., Dionisi Vici, C., ... Carrozzo, R. (Accepted/In press). A novel mutation in NDUFB11 unveils a new clinical phenotype associated with lactic acidosis and sideroblastic anemia. Clinical Genetics. https://doi.org/10.1111/cge.12790

Torraco, A, Bianchi, M, Verrigni, D, Gelmetti, V, Riley, L, Niceta, M , Martinelli, D, Montanari, A, Guo, Y, Rizza, T, Diodato, D, Di Nottia, M, Lucarelli, B, Sorrentino, F, Piemonte, F, Francisci, S, Tartaglia, M , Valente, EM , Dionisi Vici, C, Christodoulou, J, Bertini, ES & Carrozzo, R 2016, 'A novel mutation in NDUFB11 unveils a new clinical phenotype associated with lactic acidosis and sideroblastic anemia', Clinical Genetics. https://doi.org/10.1111/cge.12790

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

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 = "Mitochondrial disease, NDUFB11, OXPHOS, Sideroblastic anemia",

author = "Alessandra Torraco and Marzia Bianchi and Daniela Verrigni and Vania Gelmetti and L. Riley and Marcello Niceta and Diego Martinelli and Arianna Montanari and Y. Guo and Teresa Rizza and Daria Diodato and {Di Nottia}, Michela and B. Lucarelli and F. Sorrentino and Fiorella Piemonte and Silvia Francisci and Marco Tartaglia and Valente, {Enza Maria} and {Dionisi Vici}, Carlo and John Christodoulou and Bertini, {Enrico Silvio} and Rosalba Carrozzo",

year = "2016",

doi = "10.1111/cge.12790",

language = "English",

journal = "Clinical Genetics",

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publisher = "Wiley-Blackwell Publishing Ltd",

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TY - JOUR

T1 - A novel mutation in NDUFB11 unveils a new clinical phenotype associated with lactic acidosis and sideroblastic anemia

AU - Torraco, Alessandra

AU - Bianchi, Marzia

AU - Verrigni, Daniela

AU - Gelmetti, Vania

AU - Riley, L.

AU - Niceta, Marcello

AU - Martinelli, Diego

AU - Montanari, Arianna

AU - Guo, Y.

AU - Rizza, Teresa

AU - Diodato, Daria

AU - Di Nottia, Michela

AU - Lucarelli, B.

AU - Sorrentino, F.

AU - Piemonte, Fiorella

AU - Francisci, Silvia

AU - Tartaglia, Marco

AU - Valente, Enza Maria

AU - Dionisi Vici, Carlo

AU - Christodoulou, John

AU - Bertini, Enrico Silvio

AU - Carrozzo, Rosalba

PY - 2016

Y1 - 2016

N2 - 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.

AB - 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.

KW - Mitochondrial disease

KW - NDUFB11

KW - OXPHOS

KW - Sideroblastic anemia

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U2 - 10.1111/cge.12790

DO - 10.1111/cge.12790

M3 - Article

SN - 0009-9163

JO - Clinical Genetics

JF - Clinical Genetics

ER -

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

Abstract

Keywords

ASJC Scopus subject areas

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