Infantile Cardioencephalopathy due to a COX15 Gene Defect: Report and Review

被引：26

作者：

Alfadhel, Majid ^{[1
]}

Lillquist, Yolanda P. ^{[1
]}

Waters, Paula J. ^{[2
]}

Sinclair, Graham ^{[2
]}

Struys, Eduard ^{[2
]}

McFadden, Deborah ^{[2
]}

Hendson, Glenda ^{[2
]}

Hyams, Lauren ^{[3
]}

Shoffner, John ^{[3
]}

Vallance, Hilary D. ^{[2
]}

机构：

[1] Childrens & Womens Hlth Ctr, Dept Paediat, Vancouver, BC, Canada

[2] Childrens & Womens Hlth Ctr, Dept Pathol, Vancouver, BC, Canada

[3] Dept Med Neurogenet, Atlanta, GA USA

来源：

AMERICAN JOURNAL OF MEDICAL GENETICS PART A | 2011年 / 155A卷 / 04期

关键词：

cytochrome c oxidase deficiency; COX15; mitochondrial disorders; complex IV deficiency; nuclear gene defect; cardiomyopathy; encephalopathy; CYTOCHROME-C-OXIDASE; SACCHAROMYCES-CEREVISIAE; BIOSYNTHETIC-PATHWAY; LEIGH-SYNDROME; DEFICIENCY; MUTATIONS; ENCEPHALOMYOPATHY; SUBUNIT;

D O I：

10.1002/ajmg.a.33881

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

We describe respiratory chain complex IV deficiency (cytochrome c oxidase deficiency) in a female infant with a neonatal rapidly progressive fatal course characterized by microcephaly, encephalopathy, persistent lactic acidosis, and hypertrophic cardiomyopathy. Postmortem cardiac muscle study showed marked complex IV deficiency. In contrast, complex IV activity was only slightly decreased in the skeletal muscle. Subsequent molecular investigations showed compound heterozygosity for two known pathogenic mutations in the COX15 gene. We compare the findings in our patient to those of the three previously reported cases. (C) 2011 Wiley-Liss, Inc.

引用

页码：840 / 844

页数：5

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