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Clinica Chimica Acta：新生儿短链和长链酰基辅酶a脱氢酶缺陷患者的筛查和遗传特征

2020-08-09 MedSci原创 MedSci原创

筛查；遗传特征
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酰基辅酶a脱氢酶缺乏症是一组线粒体脂肪酸氧化疾病，在中国大陆很少报道。本研究评估了通过新生儿筛查发现的短链和极长链酰基辅酶a脱氢酶缺陷(SCADD/VLCADD)患者的生化和遗传特征。

酰基辅酶a脱氢酶缺乏症是一组线粒体脂肪酸氧化疾病，在中国大陆很少报道。本研究评估了通过新生儿筛查发现的短链和极长链酰基辅酶a脱氢酶缺陷(SCADD/VLCADD)患者的生化和遗传特征。利用生信预测和结构模型研究了遗传变异对蛋白质功能的影响。

在364,545例筛查的新生儿中，4例诊断为SCADD, 4例为VLCADD。人群中SCADD和VLCADD的发病率为1:91 136。所有患者显示C4或C14:1水平升高。3例SCADD患者尿乙基丙二酸浓度升高。鉴定出6个ACADS和8个ACADVL变异，没有热点变异，包括4个误义变异和1个剪接位点变异未报道。ACADVL c.1434 + 2 T > C是一种剪接位点变异，可影响剪接，导致14外显子跳跃。在计算机工具中预测错义变体会致病。结构建模证实，错义变体可能影响四级结构，导致蛋白质不稳定。

本研究的发现扩展了ACADS和ACADVL的突变谱。计算机硅预测和结构模型的结合可以提高对未报道的遗传变异的致病性的理解，为变异评估提供一个解释。

原始出处：

YimingLin，Weifeng Zhang，Newborn screening and genetic characteristics of patients with short- and very long-chain acyl-CoA dehydrogenase deficiencies

 

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    2021-06-16 ms3830150583600765

    #遗传特征#

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    2021-01-29 ms9474365431325850

    #辅酶A#

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    2021-01-24 windight

    #CTA#

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