ANOTHER MODEL FOR THE INHERITANCE OF RETT SYNDROME

被引：35

作者：

BUHLER, EM

MALIK, NJ

ALKAN, M

机构：

[1] Department of Genetics, Basel University, Children's Hospital, CH-4005 Basel

来源：

AMERICAN JOURNAL OF MEDICAL GENETICS | 1990年 / 36卷 / 01期

关键词：

allelic and non-allelic interference; hyperammonemia; metabolic interference; OTC-deficiency; Rett syndrome; spontaneous mutation;

D O I：

10.1002/ajmg.1320360125

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

The fact that probably less than 1% of Rett syndrome cases are familial speaks in favor of a spontaneous mutation as the most common cause of Rett syndrome. However, the few familial cases (about 10) described in the literature, the elevated consanguinity rate in parents of Rett patients (2.4% vs. 0.5%), and the existence of 'formes frustes' in relatives of Rett girls, suggest that inheritance must exist. A model based on a hypothetical form of inheritance, namely allelic and non-allelic metabolic interference, fits almost all available data, as well as the exclusive occurrence in females without increased abortion rate.

引用

页码：126 / 131

页数：6

共 27 条

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