Prenatal diagnosis of Menkes disease by genetic analysis and copper measurement
Prenatal diagnosis of Menkes disease by genetic analysis and copper measurement
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DOI：
10.1016/s0387-7604(02)00093-1
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发表时间：
2002-10-01
影响因子：
1.7
通讯作者：
Lee, CC
中科院分区：
文献类型：
--
作者：
Gu, YH;Kodama, H;Lee, CC
对日本门克斯病(MNK)家系的12名妇女进行了携带者检测，对6名胎儿进行了产前诊断，方法是对培养细胞中铜浓度进行基因分析和/或测量。在8名MNK患者的母亲中，有6人是携带者，2人(25%)不是携带者。两名无关患者表现出相同的突变(R986X)：一名患者的母亲是携带者，而另一名患者不是。一名男性和三名女性胎儿与各自的MNK先证者没有相同的突变等位基因，自出生以来一直健康。一名女性胎儿的突变等位基因与她受影响的兄弟相同。基因分析是非常有用和可靠的，尽管这种检查只适用于已发现突变的家庭。在一个没有发现ATP7A突变的家庭中，培养的来自男性胎儿的羊水细胞中铜浓度很高。因此，在他出生后，生化结果证实了MNK的存在，并开始了早期治疗。由于早期应用组氨酸铜肠外治疗能有效预防神经功能障碍的发生，因此产前诊断非常重要。(C)2002 Elsevier Science B.V.保留所有权利。
Carrier detection for 12 women and prenatal diagnosis for six fetuses in Japanese families with a patient with Menkes disease (MNK) were performed by gene analysis and/or measurement of the copper concentration in cultured cells. Six out of eight mothers of MNK patients were carriers while two (25%) were not carriers. Two unrelated patients showed the same mutation (R986X): one patient's mother was a carrier while the other was not. One male and three female fetuses did not have the same mutant allele as the respective MNK proband and have been healthy since birth. One female fetus had the same mutant allele as her affected brother. Gene analysis is very useful and reliable, although such examination is only indicated in families in which a mutation has been identified. In one family in which a mutation in ATP7A was not found, cultured amniocytes from a male fetus had a high copper concentration. Thus after his birth, the biochemical findings confirmed the presence of MNK and early treatment was started. As his early treatment with parenteral copper-histidine prevented the neurological disorders effectively, prenatal diagnosis is very important. (C) 2002 Elsevier Science B.V. All rights reserved.