对383名患门克斯病的非亲属患者进行筛查，并在ATP7A基因中发现57个大片段缺失。
Screening of 383 unrelated patients affected with Menkes disease and finding of 57 gross deletions in ATP7A.
作者信息
Tümer Zeynep, Birk Møller Lisbeth, Horn Nina
机构信息
Wilhelm Johannsen Center for Functional Genome Research, Department of Medical Genetics, IMBG, The Panum Institute, University of Copenhagen, Denmark.
出版信息
Hum Mutat. 2003 Dec;22(6):457-64. doi: 10.1002/humu.10287.
Menkes disease (MD) is an X-linked multisystemic lethal disorder of copper metabolism dominated by neurodegenerative symptoms and connective tissue disturbances. MD results from mutations in the ATP7A gene, which encodes a membrane-bound copper transporting P-type ATPase located in the trans-Golgi network. In this study we describe screening of 383 unrelated patients affected with Menkes disease for gross deletions in ATP7A gene and finding of 57 patients. The present data suggests that gross deletion of ATP7A is the disease-causing mutation in 14.9% of the Menkes disease patients. Except for a few cases, gross gene deletions result in the classical form of Menkes disease with death in early childhood.
门克斯病（MD）是一种X连锁的多系统致死性铜代谢紊乱疾病，以神经退行性症状和结缔组织紊乱为主要特征。MD由ATP7A基因突变引起，该基因编码一种位于反式高尔基体网络中的膜结合铜转运P型ATP酶。在本研究中，我们描述了对383例无关的门克斯病患者进行ATP7A基因大片段缺失筛查，并发现了57例患者。目前的数据表明，ATP7A基因大片段缺失是14.9%的门克斯病患者的致病突变。除少数病例外，基因大片段缺失导致典型的门克斯病形式，患儿在幼儿期死亡。
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