Ndufs4 related Leigh syndrome: A case report and review of the literature

Ortigoza-Escobar,J. ; Oyarzabal,A. ; Montero,R. ; Artuch,R. ; Jou,C. ; Jiménez,C. ; Gort,L. ; Briones,P. ; Muchart,J. ; López-Gallardo,E. (Universidad de Zaragoza) ; Emperador,S. ; Ruiz Pesini,E. (Universidad de Zaragoza) ; Montoya,J. (Universidad de Zaragoza) ; Pérez,B. ; Rodríguez-Pombo,P. ; Pérez-Dueñas,B.

Resumen: The genetic causes of Leigh syndrome are heterogeneous, with a poor correlation between the phenotype and genotype. Here, we present a patient with an NDUFS4 mutation to expand the clinical and biochemical spectrum of the disease. A combined defect in the CoQ, PDH and RCC activities in our patient was due to an inappropriate assembly of the RCC complex I (CI), which was confirmed using Blue-Native polyacrylamide gel electrophoresis (BN-PAGE) analysis. Targeted exome sequencing analysis allowed for the genetic diagnosis of this patient. We reviewed 198 patients with 24 different genetic defects causing RCC I deficiency and compared them to 22 NDUFS4 patients. We concluded that NDUFS4-related Leigh syndrome is invariably linked to an early onset severe phenotype that results in early death. Some data, including the clinical phenotype, neuroimaging and biochemical findings, can guide the genetic study in patients with RCC I deficiency.

Idioma: Inglés

DOI: 10.1016/j.mito.2016.04.001

Año: 2016

Publicado en: MITOCHONDRION 28 (2016), 73-78
ISSN: 1567-7249

Factor impacto JCR: 3.704 (2016)

Categ. JCR: GENETICS & HEREDITY rank: 51 / 165 = 0.309 (2016) - Q2 - T1
Categ. JCR: CELL BIOLOGY rank: 82 / 188 = 0.436 (2016) - Q2 - T2

Factor impacto SCIMAGO: 1.852 - Molecular Medicine (Q1) - Cell Biology (Q2) - Molecular Biology (Q2)

Tipo y forma: Article (Published version)

Área (Departamento): Area Histología (Dpto. Anatom.Histolog.Humanas)
Área (Departamento): Área Bioquímica y Biolog.Mole. (Dpto. Bioq.Biolog.Mol. Celular)