A novel mutation in NDUFB11 unveils a new clinical phenotype associated with lactic acidosis and sideroblastic anemia.
Clin Genet
; 91(3): 441-447, 2017 03.
Article
em En
| MEDLINE
| ID: mdl-27102574
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.
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Texto completo:
1
Base de dados:
MEDLINE
Assunto principal:
Acidose Láctica
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Microftalmia
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Complexo I de Transporte de Elétrons
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Anemia Sideroblástica
Tipo de estudo:
Risk_factors_studies
Limite:
Child
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Humans
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Male
Idioma:
En
Ano de publicação:
2017
Tipo de documento:
Article