Tümer Z, Møller L B, Horn N
Department of Medical Genetics, Panum Institute, University of Copenhagen, Denmark.
Adv Exp Med Biol. 1999;448:83-95. doi: 10.1007/978-1-4615-4859-1_7.
Our knowledge about Menkes disease (MD) has expanded greatly since its description in 1962 as a new X-linked recessive neurodegenerative disorder of early infancy. Ten years later a defect in copper metabolism was established as the underlying biochemical deficiency. In the beginning of 1990s efforts were concentrated on the molecular genetic aspects. The disease locus was mapped to Xq13.3 and the gene has been isolated by means of positional cloning. This was the beginning of a series of new findings which have greatly enhanced our understanding of copper metabolism not only in human, but also in other species. This review will focus on the molecular genetic aspects of Menkes disease and its allelic form occipital horn syndrome. The mutations will be compared briefly with those described in the animal model mottled mouse, and in Wilson disease, the autosomal recessive disorder of copper metabolism.
自1962年将门克斯病（MD）描述为一种新的婴儿早期X连锁隐性神经退行性疾病以来，我们对它的认识有了极大的扩展。十年后，铜代谢缺陷被确定为潜在的生化缺陷。20世纪90年代初，研究工作集中在分子遗传学方面。疾病基因座被定位到Xq13.3，并且通过定位克隆分离出了该基因。这开启了一系列新发现的序幕，这些发现不仅极大地增进了我们对人类铜代谢的理解，也增进了对其他物种铜代谢的理解。本综述将聚焦于门克斯病及其等位基因形式枕角综合征的分子遗传学方面。这些突变将与斑驳小鼠动物模型以及威尔逊病（铜代谢的常染色体隐性疾病）中所描述的突变进行简要比较。
