Phosphoserine phosphatase deficiency in a patient with Williams syndrome
Phosphoserine phosphatase deficiency in a patient with Williams syndrome
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DOI：
10.1136/jmg.34.7.594
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发表时间：
1997-07-01
影响因子：
4
通讯作者：
VanSchaftingen, E
中科院分区：
文献类型：
--
作者：
Jaeken, J;Detheux, M;VanSchaftingen, E
丝氨酸水平下降，发现在血浆和脑脊液（CSF）的男孩与产前和产后生长迟缓，中度精神发育迟滞，面部畸形提示威廉姆斯综合征。荧光原位杂交与弹性蛋白基因探针表明存在一个亚显微7q11.23缺失，证实了这一诊断。进一步研究表明，磷酸丝氨酸磷酸酶（EC 3.1.3.3.）成淋巴细胞和成纤维细胞中的活性约为正常值的25%。口服丝氨酸使这种氨基酸的血浆和CSF水平正常化，并且似乎具有一些临床效果。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是紧密连锁的。这似乎是磷酸丝氨酸磷酸酶缺乏症的首次报道。
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.