A novel familial case of diffuse leukodystrophy related to NDUFV1 compound heterozygous mutations |
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| Authors: | Oscar Ortega-Recalde Dora Janeth Fonseca Liliana Catherine Patiño Juan Jaime Atuesta Carolina Rivera-Nieto Carlos Martín Restrepo Heidi Eliana Mateus Marjo S. van der Knaap Paul Laissue |
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| Affiliation: | 1. Unidad de Genética, Escuela de Medicina y Ciencias de la Salud, Universidad del Rosario, Bogotá, Colombia;2. Genética Molecular de Colombia, Departamento de Genética Molecular, Bogotá, Colombia;3. Centro Dermatológico Federico Lleras Acosta, Bogotá, Colombia;4. Department of Child Neurology, VU University Medical Center, Amsterdam, The Netherlands |
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| Abstract: | NDUFV1 mutations have been related to encephalopathic phenotypes due to mitochondrial energy metabolism disturbances. In this study, we report two siblings affected by a diffuse leukodystrophy, who carry the NDUFV1 c.1156C>T (p.Arg386Cys) missense mutation and a novel 42-bp deletion. Bioinformatic and molecular analysis indicated that this deletion lead to the synthesis of mRNA molecules carrying a premature stop codon, which might be degraded by the nonsense-mediated decay system. Our results add information on the molecular basis and the phenotypic features of mitochondrial disease caused by NDUFV1 mutations. |
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