Prenatal diagnosis of glycogen storage disease type IV
Prenatal diagnosis of glycogen storage disease type IV
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DOI：
10.1002/pd.1533
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发表时间：
2006-10-01
影响因子：
3
通讯作者：
Petersen, Michael B.
中科院分区：
文献类型：
--
作者：
Akman, H. Orhan;Karadimas, Charalampos;Petersen, Michael B.
背景糖原累积病IV型（GSD-IV）是一种罕见的常染色体隐性遗传病，由于GBE 1基因突变导致糖原分支酶（GBE）缺乏。产前诊断偶尔进行的GBE活性培养的绒毛膜绒毛（CV）cells.Methods的测量两个无关的先证者在出生时和死亡期间的新生儿期严重肌张力低下诊断与GSD-IV的基础上，尸检组织学结果。结果两个家系均存在GBE 1截短突变。详细尸检的受影响的胎儿在14和24周的妊娠表现出异常糖原的GSD-IV特征的细胞内包涵体。结论GSD-IV的产前诊断的DNA分析是高度准确的遗传确诊病例。版权所有（C）2006约翰威利父子有限公司
Background Glycogen storage disease type IV (GSD-IV) is a rare autosomal recessive disorder due to mutations in the GBE1 gene causing deficiency of the glycogen branching enzyme (GBE). Prenatal diagnosis has occasionally been performed by the measurement of the GBE activity in cultured chorionic villi (CV) cells.Methods Two unrelated probands with severe hypotonia at birth and death during the neonatal period were diagnosed with GSD-IV on the basis of postmortem histological findings. DNA analysis revealed truncating GBE1 mutations in both families.Results Prenatal diagnosis was performed in subsequent pregnancies by determination of branching enzyme activity and DNA analysis of CV or cultured amniocytes. Detailed autopsies of the affected fetuses at 14 and 24 weeks of gestation demonstrated intracellular inclusions of abnormal glycogen characteristic of GSD-IV.Conclusion Prenatal diagnosis of GSD-IV by DNA analysis is highly accurate in genetically confirmed cases. Copyright (C) 2006 John Wiley & Sons, Ltd.