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First pathogenic non-coding variant in MMACHC: a functional deletion in the 5'-UTR associated with cobalamin C deficiency.

作者信息

Zhang Ying, Wang Leyi, Liu Xiangyu, Sun Mei, Wang Hong, Li Jiaci, Zhang Shuyue, Zhang Ning, Li Dong, Shu Jianbo, Cai Chunquan

机构信息

Graduate College of Tianjin Medical University, No. 22 Qixiangtai Road, Heping District, Tianjin, 300070, China.

Department of Neurology, Tianjin Children's Hospital (Children's Hospital of Tianjin University), No. 238 Longyan Road, Beichen District, Tianjin, 300134, China.

出版信息

Mol Biol Rep. 2025 Sep 9;52(1):877. doi: 10.1007/s11033-025-10935-z.

DOI:10.1007/s11033-025-10935-z
PMID:40924230
Abstract
摘要

相似文献

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First pathogenic non-coding variant in MMACHC: a functional deletion in the 5'-UTR associated with cobalamin C deficiency.MMACHC基因中的首个致病性非编码变异：5'-UTR区的功能性缺失与钴胺素C缺乏症相关。
Mol Biol Rep. 2025 Sep 9;52(1):877. doi: 10.1007/s11033-025-10935-z.
2
Variable phenotypes and outcomes associated with the MMACHC c.1A>G variant in Chinese patients with combined methylmalonic acidemia and homocystinuria cblC type.中国甲基丙二酸血症合并同型胱氨酸尿症 cblC 型患者中与 MMACHC c.1A>G 变异相关的可变表型和结局
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Isolated Methylmalonic Acidemia孤立性甲基丙二酸血症
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Disorders of Intracellular Cobalamin Metabolism细胞内钴胺素代谢紊乱
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Eur Biophys J. 2025 Jun 27. doi: 10.1007/s00249-025-01777-5.
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Prenatal diagnosis of combined methylmalonic acidemia and homocystinuria cobalamin C type using clinical exome sequencing and targeted gene analysis.采用临床外显子组测序和靶向基因分析对甲基丙二酸血症和同型胱氨酸尿症 cobalamin C 型进行产前诊断。
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Abnormal chondrocyte intercalation in a zebrafish model of syndrome restored by an MMACHC cobalamin binding mutant.MMACHC钴胺素结合突变体恢复了斑马鱼综合征模型中软骨细胞的异常嵌入。
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Abnormal chondrocyte development in a zebrafish model of cblC syndrome restored by an MMACHC cobalamin binding mutant.CblC 综合征斑马鱼模型中软骨细胞发育异常可被 MMACHC 钴胺素结合突变体恢复。
Differentiation. 2023 May-Jun;131:74-81. doi: 10.1016/j.diff.2023.04.003. Epub 2023 May 5.
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A case report of combined methylmalonic acidemia and homocysteinemia presented with cerebral sinus thrombosis and fluctuating cognitive impairment.一例合并甲基丙二酸血症和高同型半胱氨酸血症并伴有脑静脉窦血栓形成及波动性认知障碍的病例报告。
Medicine (Baltimore). 2025 Jun 13;104(24):e42919. doi: 10.1097/MD.0000000000042919.

本文引用的文献

1
A computer-aided diagnosis system for brain tumors based on artificial intelligence algorithms.一种基于人工智能算法的脑肿瘤计算机辅助诊断系统。
Front Neurosci. 2023 Jul 7;17:1120781. doi: 10.3389/fnins.2023.1120781. eCollection 2023.
2
Serum vitamin B12 is a promising auxiliary index for the diagnosis of methylmalonic acidemia in children: A single center study in China.血清维生素 B12 是诊断儿童甲基丙二酸血症的有前途的辅助指标：中国单中心研究。
Clin Chim Acta. 2023 Jun 1;546:117409. doi: 10.1016/j.cca.2023.117409. Epub 2023 May 20.
3
The Functional Meaning of 5'UTR in Protein-Coding Genes.
5'UTR 在蛋白质编码基因中的功能意义。
Int J Mol Sci. 2023 Feb 3;24(3):2976. doi: 10.3390/ijms24032976.
4
Epimutations in both the TESK2 and MMACHC promoters in the Epi-cblC inherited disorder of intracellular metabolism of vitamin B.维生素 B 细胞内代谢遗传性疾病 Epi-cblC 中 TESK2 和 MMACHC 启动子的表观遗传改变。
Clin Epigenetics. 2022 Apr 19;14(1):52. doi: 10.1186/s13148-022-01271-1.
5
The Follow-Up of Chinese Patients in cblC Type Methylmalonic Acidemia Identified Through Expanded Newborn Screening.通过扩大新生儿筛查确诊的cblC型甲基丙二酸血症中国患者的随访
Front Genet. 2022 Feb 15;13:805599. doi: 10.3389/fgene.2022.805599. eCollection 2022.
6
Epimutation in inherited metabolic disorders: the influence of aberrant transcription in adjacent genes.遗传性代谢紊乱中的表观遗传改变：邻近基因异常转录的影响。
Hum Genet. 2022 Jul;141(7):1309-1325. doi: 10.1007/s00439-021-02414-9. Epub 2022 Feb 21.
7
DNA copy number variation: Main characteristics, evolutionary significance, and pathological aspects.DNA 拷贝数变异：主要特征、进化意义和病理方面。
Biomed J. 2021 Oct;44(5):548-559. doi: 10.1016/j.bj.2021.02.003. Epub 2021 Feb 13.
8
Genome-wide functional screen of 3'UTR variants uncovers causal variants for human disease and evolution.全基因组 3'UTR 变异功能筛选揭示了人类疾病和进化的因果变异。
Cell. 2021 Sep 30;184(20):5247-5260.e19. doi: 10.1016/j.cell.2021.08.025. Epub 2021 Sep 16.
9
Phenotypic and genotypic analysis of children with methylmalonic academia: A single-center study in China and a recent literature review.中国单中心儿童甲基丙二酸血症表型和基因型分析及文献复习
Clin Chim Acta. 2021 Nov;522:14-22. doi: 10.1016/j.cca.2021.08.008. Epub 2021 Aug 10.
10
PRDX1 gene-related epi-cblC disease is a common type of inborn error of cobalamin metabolism with mono- or bi-allelic MMACHC epimutations.PRDX1 基因相关的 epi-cblC 病是一种常见的钴胺素代谢先天性错误类型，具有单等位基因或双等位基因 MMACHC 外显子突变。
Clin Epigenetics. 2021 Jul 2;13(1):137. doi: 10.1186/s13148-021-01117-2.