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Clinica Chimica Acta：外显子缺失和罕见突变的组合可导致丙酸血症的误诊？

2020-04-12 MedSci原创 MedSci原创

丙酸血症；误诊
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由于缺乏丙酰辅酶a羧化酶(PCC)而积累丙酸，丙酸血症(PA)是一种先天的代谢问题。在这项研究中，我们提出了一个PCC活性缺陷的特殊案例。

由于缺乏丙酰辅酶a羧化酶(PCC)而积累丙酸，丙酸血症(PA)是一种先天的代谢问题。在这项研究中，我们提出了一个PCC活性缺陷的特殊案例。虽然下一代测序两次用于检测患者的遗传缺陷，但未发现一种代谢性疾病基因的致病突变。在产前诊断中筛查了与该疾病有关的突变，但母亲仍生下了不健康的新生儿。 我们分析了第二个测序数据，发现筛选出一个新的同义PCCA突变c.1746 G> C（p.S582S），该突变导致外显子19跳跃。 此外，使用q-PCR和DNA断裂点测试鉴定了覆盖PCCA基因的外显子3和外显子4的缺失突变。 两者都可能导致PCCA蛋白功能丧失。

这一发现扩大了PCCA基因的突变谱，并表明应考虑使用另一种技术，例如cDNA分析，多重连接依赖探针扩增（MLPA）或长期阅读的全基因组测序，以提高特殊病例的检出率。

原始出处：

Handuo Wang，Lanlan Meng，Combinations of exonic deletions and rare mutations lead to misdiagnosis of propionic acidemia

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    2020-06-19 windight

    #CTA#

    0

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    2020-07-29 Eleven11

    #丙酸血症#

    0

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    2020-04-14 syscxl

    #罕见#

    0

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    2020-04-14 docwu2019

    #外显子#

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