Matthijs G, Schollen E, Cassiman J J, Cormier-Daire V, Jaeken J, van Schaftingen E
Center for Human Genetics, University of Leuven, Belgium.
Eur J Hum Genet. 1998 Mar-Apr;6(2):99-104. doi: 10.1038/sj.ejhg.5200161.
Carbohydrate-deficient glycoprotein syndrome type 1 (CDG1) is an autosomal recessive, metabolic disorder with severe psychomotor retardation and a high mortality rate in early childhood. Most patients have a deficiency of phosphomannomutase, due to mutations in PMM2, a gene located on chromosome 16p13. Over a period of 18 months we offered prenatal diagnosis to eight families. In six cases and prior to the identification of the gene, the diagnosis was based on linkage analysis and phosphomannomutase measurements. Subsequently direct mutation analysis has been used in two families. It is shown here that phosphomannomutase activities are strongly reduced in cultured amniocytes and trophoblasts of affected foetuses. We refrained from offering prenatal testing in two other families, because either the disease did not link to chromosome 16 and/or normal phosphomannomutase activities were measured in fibroblasts from the proband. This confirms earlier suggestions of heterogeneity for CDG1.
1型糖基化缺陷糖蛋白综合征（CDG1）是一种常染色体隐性代谢紊乱疾病，伴有严重的精神运动发育迟缓，幼儿期死亡率高。大多数患者因位于16号染色体p13上的PMM2基因突变而缺乏磷酸甘露糖变位酶。在18个月的时间里，我们为8个家庭提供了产前诊断。在6个病例中，在基因鉴定之前，诊断基于连锁分析和磷酸甘露糖变位酶测量。随后，直接突变分析已用于2个家庭。此处显示，受影响胎儿的培养羊膜细胞和成滋养层细胞中的磷酸甘露糖变位酶活性大幅降低。我们没有为另外2个家庭提供产前检测，因为要么该疾病与16号染色体不连锁，和/或在先证者的成纤维细胞中测得正常的磷酸甘露糖变位酶活性。这证实了之前关于CDG1异质性的观点。
