Combined OXPHOS complex I and IV defect, due to mutated complex I assembly factor C20ORF7

被引：43

作者：

Saada, Ann ^{[1
,2
]}

Edvardson, Shimon ^{[3
]}

Shaag, Avraham ^{[1
,2
]}

Chung, Wendy K. ^{[4
,5
]}

Segel, Reeval ^{[6
,7
]}

Miller, Chaya ^{[1
,2
]}

Jalas, Chaim ^{[8
]}

Elpeleg, Orly ^{[1
,2
]}

机构：

[1] Hebrew Univ Jerusalem, Med Ctr, Monique & Jacques Roboh Dept Genet Res, IL-91120 Jerusalem, Israel

[2] Hebrew Univ Jerusalem, Med Ctr, Dept Genet & Metab Dis, IL-91120 Jerusalem, Israel

[3] Hadassah Med Ctr, Pediat Neurol Unit, IL-91120 Jerusalem, Israel

[4] Columbia Univ, Med Ctr, Dept Pediat, New York, NY 10032 USA

[5] Columbia Univ, Med Ctr, Dept Med, New York, NY 10032 USA

[6] Shaare Zedek Med Ctr, Dept Pediat, IL-91031 Jerusalem, Israel

[7] Shaare Zedek Med Ctr, Dept Med Genet, IL-91031 Jerusalem, Israel

[8] Bonei Olam Ctr Rare Jewish Genet Disorders, Brooklyn, NY USA

来源：

JOURNAL OF INHERITED METABOLIC DISEASE | 2012年 / 35卷 / 01期

关键词：

MITOCHONDRIAL COMPLEX; MOLECULAR CHAPERONE; DEFICIENCY; DISEASE; MUTATIONS; GENE; ENCEPHALOPATHY; PREVALENCE; SUBUNITS; FOXRED1;

D O I：

10.1007/s10545-011-9348-y

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

Defects of the mitochondrial oxidative phosphorylation (OXPHOS) system are frequent causes of neurological disorders in children. Linkage analysis and DNA sequencing identified a new founder p.G250V substitution in the C20ORF7 complex I chaperone in five Ashkenazi Jewish patients from two families with a combined OXPHOS complex I and IV defect presenting with Leigh's syndrome in infancy. Complementation with the wild type gene restored complex I, but only partially complex IV activity. Although the pathogenic mechanism remains elusive, a C20ORF7 defect should be considered not only in isolated complex I deficiency, but also in combination with decreased complex IV. Given the significant 1:290 carrier rate for the p.G250V mutation among Ashkenazi Jews, this mutation should be screened in all Ashkenazi patients with Leigh's syndrome prior to muscle biopsy.

引用

页码：125 / 131

页数：7

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