A high rate (20%-30%) of parental consanguinity in cytochrome-oxidase deficiency

被引:65
作者
von Kleist-Retzow, JC
Cormier-Daire, V
de Lonlay, P
Parfait, B
Chretien, D
Rustin, P
Feingold, J
Rötig, A
Munnich, A
机构
[1] Hop Necker Enfants Malad, INSERM, U393, Unite Rech Handicaps Genet Enfant, F-75743 Paris 15, France
[2] Hop Necker Enfants Malad, Dept Genet, F-75743 Paris, France
[3] INSERM, U155, Unite Rech Epidemiol Genet, Paris, France
关键词
D O I
10.1086/301957
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
By studying a large series of 157 patients, we found that complex I (33%), complex IV (28%), and complex I+IV (28%) deficiencies were the most common causes of respiratory chain (RC) defects in childhood. Truncal hypotonia (36%), antenatal (20%) and postnatal (31%) growth retardation, cardiomyopathy (24%), encephalopathy (20%), and liver failure (20%) were the main clinical features in our series. No correlation between I-he type of RC defect and the clinical presentation was noted, hut complex I and complex I+IV deficiencies were significantly more frequent in cases of cardiomyopathy (P <.01) and hepatic failure (P <.05), respectively. The sex ratio (male/female) in our entire series was mostly balanced but was skewed toward males being affected with complex I deficiency (sex ratio R = 1.68). Interestingly, a high rate of parental consanguinity was observed in complex IV (20%) and complex II-IV (28%) deficiencies. When parental consanguinity was related to geographic origin, an even higher rate of inbreeding was observed in North African families (76%, P<.01). This study gives strong support to the view that an autosomal recessive mode of inheritance is involved in most cases of mitochondrial disorders in childhood, a feature that is particularly relevant to genetic counseling for this devastating condition.
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页码:428 / 435
页数:8
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