HPCA 被确认为 DYT2 样肌张力障碍表型的遗传原因。
HPCA confirmed as a genetic cause of DYT2-like dystonia phenotype.
机构信息
German Center for Neurodegenerative Diseases (DZNE)-Tübingen, Tübingen, Germany.
Hertie Institute for Clinical Brain Research, University of Tübingen, Tübingen, Germany.
出版信息
Mov Disord. 2018 Aug;33(8):1354-1358. doi: 10.1002/mds.27442. Epub 2018 Aug 25.
BACKGROUND
HPCA (hippocalcin) is one of the underlying genetic causes of autosomal-recessively inherited forms of dystonia. Here, we describe two consanguineous Turkish DYT-HPCA families carrying the novel HPCA mutations.
METHODS
After detailed clinical and neurological examination, whole-exome sequencing was performed.
RESULTS
Whole-exome sequencing analysis revealed two homozygous novel truncating mutations (p.W103* and p.P10PfsTer80) in the HPCA gene in two unrelated Turkish dystonia families presenting with complex dystonia.
CONCLUSIONS
After identification of HPCA as a genetic cause of DYT-HPCA-like dystonia by Charlesworth et al, this is the second report in the scientific literature that describes dystonia families harboring HPCA mutations. Our findings confirm that HPCA leads to recessively inherited dystonia. © 2018 International Parkinson and Movement Disorder Society.
背景
HPCA（海帕钙蛋白）是常染色体隐性遗传形式的肌张力障碍的潜在遗传原因之一。在这里，我们描述了两个携带新型 HPCA 突变的近亲土耳其 DYT-HPCA 家族。
方法
在进行详细的临床和神经学检查后，进行了全外显子组测序。
结果
全外显子组测序分析显示，两个不相关的土耳其肌张力障碍家族均存在复杂的肌张力障碍，其 HPCA 基因中存在两个纯合新型截断突变（p.W103* 和 p.P10PfsTer80）。
结论
在 Charlesworth 等人确定 HPCA 为 DYT-HPCA 样肌张力障碍的遗传原因后，这是描述携带 HPCA 突变的肌张力障碍家族的第二次科学文献报道。我们的研究结果证实 HPCA 导致隐性遗传的肌张力障碍。 © 2018 国际帕金森病和运动障碍学会。
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