A novel familial case of diffuse leukodystrophy related to NDUFV1 compound heterozygous mutations

O. Ortega-Recalde; D.J. Fonseca; L.C. Patino; J.J. Atuesta; C. Rivera-Nieto; C.M. Restrepo; H.E. Mateus; M.S. van der Knaap; P. Laissue

doi:10.1016/j.mito.2013.03.010

A novel familial case of diffuse leukodystrophy related to NDUFV1 compound heterozygous mutations

O. Ortega-Recalde, D.J. Fonseca, L.C. Patino, J.J. Atuesta, C. Rivera-Nieto, C.M. Restrepo, H.E. Mateus, M.S. van der Knaap, P. Laissue

Functional Genomics

Research output: Contribution to Journal › Article › Academic › peer-review

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. © 2013 Elsevier B.V. and Mitochondria Research Society. All rights reserved.

Original language	English
Pages (from-to)	749-754
Journal	Mitochondrion
Volume	13
Issue number	6
DOIs	https://doi.org/10.1016/j.mito.2013.03.010
Publication status	Published - 2013

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title = "A novel familial case of diffuse leukodystrophy related to NDUFV1 compound heterozygous mutations",

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. {\textcopyright} 2013 Elsevier B.V. and Mitochondria Research Society. All rights reserved.",

author = "O. Ortega-Recalde and D.J. Fonseca and L.C. Patino and J.J. Atuesta and C. Rivera-Nieto and C.M. Restrepo and H.E. Mateus and {van der Knaap}, M.S. and P. Laissue",

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doi = "10.1016/j.mito.2013.03.010",

language = "English",

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TY - JOUR

T1 - A novel familial case of diffuse leukodystrophy related to NDUFV1 compound heterozygous mutations

AU - Ortega-Recalde, O.

AU - Fonseca, D.J.

AU - Patino, L.C.

AU - Atuesta, J.J.

AU - Rivera-Nieto, C.

AU - Restrepo, C.M.

AU - Mateus, H.E.

AU - van der Knaap, M.S.

AU - Laissue, P.

PY - 2013

Y1 - 2013

N2 - 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. © 2013 Elsevier B.V. and Mitochondria Research Society. All rights reserved.

AB - 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. © 2013 Elsevier B.V. and Mitochondria Research Society. All rights reserved.

U2 - 10.1016/j.mito.2013.03.010

DO - 10.1016/j.mito.2013.03.010

M3 - Article

SN - 1567-7249

VL - 13

SP - 749

EP - 754

JO - Mitochondrion

JF - Mitochondrion

IS - 6

ER -

A novel familial case of diffuse leukodystrophy related to NDUFV1 compound heterozygous mutations

Abstract

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