一名患有1型戊二酸血症的伊朗患者的戊二酰辅酶A脱氢酶基因（GCDH）发生了一种新的突变。
A novel mutation in the glutaryl-CoA dehydrogenase gene (GCDH) in an Iranian patient affected with Glutaric acidemia type 1.
作者信息
Rayat Sima, Morovvati Saeid
机构信息
Department of Biology, Science and Research Branch Islamic Azad University Tehran Iran.
Department of Genetics Islamic Azad University Tehran Medical Sciences Branch Tehran Iran.
出版信息
Clin Case Rep. 2021 Sep 7;9(9):e04749. doi: 10.1002/ccr3.4749. eCollection 2021 Sep.
Abstract
Our findings revealed the mutation c.536T>C (p. Leu179Pro) in GCDH gene although has not been reported so far, but the in-silico analysis and clinical symptoms of the patient indicated that the mutation is pathogenic full stop. Also, it can be diagnosed and prevented in families affected by the disease.
摘要
我们的研究结果显示，GCDH基因中的c.536T>C（p.Leu179Pro）突变虽然迄今为止尚未见报道，但对该患者的计算机模拟分析和临床症状表明该突变具有致病性。此外，在受该疾病影响的家族中可以对其进行诊断和预防。
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