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

被引：50

作者：

Dario Ortigoza-Escobar, Juan ^{[1
,10
]}

Oyarzabal, Alfonso ^{[2
]}

Montero, Raquel ^{[3
]}

Artuch, Rafael ^{[3
,9
]}

Jou, Cristina ^{[4
,9
]}

Jimenez, Cecilia ^{[4
,9
]}

Gort, Laura ^{[5
,9
]}

Briones, Paz ^{[5
,8
,9
]}

Muchart, Jordi ^{[6
]}

Lopez-Gallardo, Ester ^{[7
,9
]}

Emperador, Sonia ^{[7
,9
]}

Ruiz Pesini, Eduardo ^{[7
,9
]}

Montoya, Julio ^{[7
,9
]}

Perez, Belen ^{[2
]}

Rodriguez-Pombo, Pilar ^{[2
]}

Perez-Duenas, Belen ^{[1
,9
]}

机构：

[1] Univ Barcelona, St Joan Deu Hosp, Div Child Neurol, E-08007 Barcelona, Spain

[2] Univ Autonoma Madrid, Ctr Biol Mol Severo Ochoa CSIC UAM, Ctr Diagnost Enfermedades Mol CEDEM, Dept Biol Mol,IDIPAZ, E-28049 Madrid, Spain

[3] Univ Barcelona, St Joan de Deu Hosp, Div Biochem, E-08007 Barcelona, Spain

[4] Univ Barcelona, St Joan de Deu Hosp, Pathol, E-08007 Barcelona, Spain

[5] Hosp Clin Barcelona, Dept Biochem & Mol Genet, Div Inborn Errors Metab IBC, Barcelona, Spain

[6] Univ Barcelona, St Joan de Deu Hosp, Radiol, E-08007 Barcelona, Spain

[7] Univ Zaragoza, ISCIII, E-50009 Zaragoza, Spain

[8] ISCIII, CSIC, Barcelona, Spain

[9] ISCIII, Ctr Biomed Res Rare Dis CIBERER, Barcelona, Spain

[10] Fdn Hosp Asilo Granollers, Div Child Neurol, Barcelona, Spain

来源：

MITOCHONDRION | 2016年 / 28卷

关键词：

Leigh syndrome; Respiratory chain complex I; NDUFS4; BN-PAGE; Next generation sequencing; COMPLEX-I DEFICIENCY; THIAMINE TRANSPORTER-2 DEFICIENCY; ALLOWS RAPID IDENTIFICATION; RESPIRATORY-CHAIN; AQDQ SUBUNIT; MITOCHONDRIAL DISEASE; NONSENSE MUTATION; GENE; DEHYDROGENASE; NFU1;

D O I：

10.1016/j.mito.2016.04.001

中图分类号：

Q2 [细胞生物学];

学科分类号：

071009 ; 090102 ;

摘要：

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. (C) 2016 Elsevier B.V. and Mitochondria Research Society. All rights reserved.

引用

页码：73 / 78

页数：6

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