Matthijs G, Schollen E, Bjursell C, Erlandson A, Freeze H, Imtiaz F, Kjaergaard S, Martinsson T, Schwartz M, Seta N, Vuillaumier-Barrot S, Westphal V, Winchester B
Center for Human Genetics, University of Leuven, Leuven, Belgium.
Hum Mutat. 2000 Nov;16(5):386-94. doi: 10.1002/1098-1004(200011)16:5<386::AID-HUMU2>3.0.CO;2-Y.
The PMM2 gene, which is defective in CDG-Ia, was cloned three years ago [Matthijs et al., 1997b]. Several publications list PMM2 mutations [Matthijs et al., 1997b, 1998; Kjaergaard et al., 1998, 1999; Bjursell et al., 1998, 2000; Imtiaz et al., 2000] and a few mutations have appeared in case reports or abstracts [Crosby et al., 1999; Kondo et al., 1999; Krasnewich et al., 1999; Mizugishi et al., 1999; Vuillaumier-Barrot et al., 1999, 2000b]. However, the number of molecularly characterized cases is steadily increasing and many new mutations may never make it to the literature. Therefore, we decided to collate data from six research and diagnostic laboratories that have committed themselves to a systematic search for PMM2 mutations. In total we list 58 different mutations found in 249 patients from 23 countries. We have also collected demographic data and registered the number of deceased patients. The documentation of the genotype-phenotype correlation is certainly valuable, but is out of the scope of this molecular update. The list of mutations will also be available online (URL: http://www.kuleuven. ac.be/med/cdg) and investigators are invited to submit new data to this PMM2 mutation database.
在先天性糖基化障碍I型（CDG-Ia）中存在缺陷的磷酸甘露糖变位酶2（PMM2）基因于三年前被克隆出来[马蒂伊斯等人，1997b]。有几篇出版物列出了PMM2突变[马蒂伊斯等人，1997b，1998；克亚尔加德等人，1998，1999；比尤塞尔等人，1998，2000；伊姆蒂亚兹等人，2000]，并且在病例报告或摘要中出现了一些突变[克罗斯比等人，1999；近藤等人，1999；克拉斯纽维奇等人，1999；水岸等人，1999；维约米耶-巴罗等人，1999，2000b]。然而，分子特征明确的病例数量在稳步增加，许多新突变可能永远不会出现在文献中。因此，我们决定整理来自六个致力于系统搜索PMM2突变的研究和诊断实验室的数据。我们总共列出了在来自23个国家的249名患者中发现的58种不同突变。我们还收集了人口统计学数据并记录了死亡患者的数量。基因型-表型相关性的记录当然很有价值，但超出了本次分子更新的范围。突变列表也将在网上公布（网址：http://www.kuleuven. ac.be/med/cdg），并邀请研究人员向这个PMM2突变数据库提交新数据。
