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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.

DOI:10.1002/ccr3.4749
PMID:34512980
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC8423083/
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。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/157e/8423083/1a28198db43b/CCR3-9-e04749-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/157e/8423083/57667096b98c/CCR3-9-e04749-g003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/157e/8423083/1a28198db43b/CCR3-9-e04749-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/157e/8423083/57667096b98c/CCR3-9-e04749-g003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/157e/8423083/1a28198db43b/CCR3-9-e04749-g001.jpg

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本文引用的文献

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Molecular and biochemical study of glutaric aciduria type 1 in 49 Russian families: nine novel mutations in the GCDH gene.1 型戊二酸血症的分子和生化研究：GCDH 基因中的 9 个新突变。
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2
Clinical, biochemical, neuroradiological and molecular characterization of Egyptian patients with glutaric acidemia type 1.对 1 型戊二酸血症埃及患者的临床、生化、神经放射学和分子特征进行描述。
Metab Brain Dis. 2019 Aug;34(4):1231-1241. doi: 10.1007/s11011-019-00422-3. Epub 2019 May 6.
3
Molecular genetic study of glutaric aciduria, type I: Identification of a novel mutation.
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J Cell Biochem. 2019 Mar;120(3):3367-3372. doi: 10.1002/jcb.27607. Epub 2018 Sep 11.
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Metab Brain Dis. 2017 Oct;32(5):1417-1426. doi: 10.1007/s11011-017-0006-4. Epub 2017 Apr 7.
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[Complex heterogeneity phenotypes and genotypes of glutaric aciduria type 1].[1型戊二酸血症的复杂异质性表型和基因型]
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JIMD Rep. 2015;21:45-55. doi: 10.1007/8904_2014_377. Epub 2015 Mar 12.
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