Jaeken J, Detheux M, Fryns J P, Collet J F, Alliet P, Van Schaftingen E
Department of Paediatrica, University Hospital Gasthuisberg, University of Leuven, Belgium.
J Med Genet. 1997 Jul;34(7):594-6. doi: 10.1136/jmg.34.7.594.
Decreased serine levels were found in plasma and cerebrospinal fluid (CSF) of a boy with pre- and postnatal growth retardation, moderate psychomotor retardation, and facial dysmorphism suggestive of Williams syndrome. Fluorescence in situ hybridisation with an elastin gene probe indicated the presence of a submicroscopic 7q11.23 deletion, confirming this diagnosis. Further investigation showed that the phosphoserine phosphatase (EC 3.1.3.3.) activity in lymphoblasts and fibroblasts amounted to about 25% of normal values. Oral serine normalised the plasma and CSF levels of this amino acid and seemed to have some clinical effect. These data suggest that the elastin gene and the phosphoserine phosphatase gene might be closely linked. This seems to be the first report of phosphoserine phosphatase deficiency.
在一名患有产前和产后生长发育迟缓、中度精神运动发育迟缓以及提示威廉姆斯综合征的面部畸形的男孩的血浆和脑脊液（CSF）中发现丝氨酸水平降低。用弹性蛋白基因探针进行荧光原位杂交表明存在亚显微的7q11.23缺失，从而证实了这一诊断。进一步研究表明，淋巴母细胞和成纤维细胞中的磷酸丝氨酸磷酸酶（EC 3.1.3.3.）活性约为正常值的25%。口服丝氨酸使该氨基酸的血浆和脑脊液水平恢复正常，并且似乎有一定临床效果。这些数据表明弹性蛋白基因和磷酸丝氨酸磷酸酶基因可能紧密连锁。这似乎是磷酸丝氨酸磷酸酶缺乏症的首例报告。
