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Clinical, neuroimaging and biochemical findings in patients and patient fibroblasts expressing ten novel GFM1 mutations.在表达十种新 GFM1 突变的患者和患者成纤维细胞中发现的临床、神经影像学和生化特征。
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2
Activation of a cryptic splice site in the mitochondrial elongation factor GFM1 causes combined OXPHOS deficiency.线粒体延伸因子GFM1中一个隐蔽剪接位点的激活导致氧化磷酸化联合缺陷。
Mitochondrion. 2017 May;34:84-90. doi: 10.1016/j.mito.2017.02.004. Epub 2017 Feb 12.
3
Neonatal mitochondrial hepatoencephalopathy caused by novel GFM1 mutations.新型GFM1突变导致的新生儿线粒体性肝脑病变
Mol Genet Metab Rep. 2015 Feb 20;3:5-10. doi: 10.1016/j.ymgmr.2015.01.004. eCollection 2015 Jun.
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A Comprehensive Genomic Analysis Reveals the Genetic Landscape of Mitochondrial Respiratory Chain Complex Deficiencies.一项全面的基因组分析揭示了线粒体呼吸链复合物缺陷的遗传图谱。
PLoS Genet. 2016 Jan 7;12(1):e1005679. doi: 10.1371/journal.pgen.1005679. eCollection 2016 Jan.
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Corrigendum: Long-term survival in a child with severe encephalopathy, multiple respiratory chain deficiency and GFM1 mutations.勘误：严重脑病、多种呼吸链缺陷和 GFM1 突变患儿的长期生存。
Front Genet. 2015 Jul 28;6:254. doi: 10.3389/fgene.2015.00254. eCollection 2015.
6
Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.序列变异解读的标准与指南：美国医学遗传学与基因组学学会和分子病理学协会的联合共识推荐
Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.
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The International Mouse Phenotyping Consortium Web Portal, a unified point of access for knockout mice and related phenotyping data.国际小鼠表型分析联盟网站门户，是用于获取基因敲除小鼠及其相关表型数据的统一入口。
Nucleic Acids Res. 2014 Jan;42(Database issue):D802-9. doi: 10.1093/nar/gkt977. Epub 2013 Nov 4.
8
Infantile Progressive Hepatoencephalomyopathy with Combined OXPHOS Deficiency due to Mutations in the Mitochondrial Translation Elongation Factor Gene GFM1.线粒体翻译延伸因子基因GFM1突变导致的伴有复合性氧化磷酸化缺陷的婴儿进行性肝脑肌病
JIMD Rep. 2012;5:113-22. doi: 10.1007/8904_2011_107. Epub 2011 Dec 21.
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Sci Transl Med. 2012 Jan 25;4(118):118ra10. doi: 10.1126/scitranslmed.3003310.
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Toward genotype phenotype correlations in GFM1 mutations.探讨 GFM1 突变与表型相关性。
Mitochondrion. 2012 Mar;12(2):242-7. doi: 10.1016/j.mito.2011.09.007. Epub 2011 Oct 1.

[一个伴有联合性氧化磷酸化缺陷1型的家族中的基因突变分析]

[Analysis of gene mutations in a family with combined oxidative phosphorylation deficiency 1].

作者信息

Shen Yaping, Yan Kai, Dong Minyue, Yang Rulai, Huang Xinwen

机构信息

Department of Genetics and Metabolism, Children's Hospital, Zhejiang University School of Medicine, National Clinical Research Center for Child Health, National Regional Medical Centre for Children, Hangzhou 310052, China.

Department of Reproductive Genetics, Women's Hospital, Zhejiang University School of Medicine, Key Laboratory of Reproductive Genetics, Ministry of Education, Hangzhou 310006, China.

出版信息

Zhejiang Da Xue Xue Bao Yi Xue Ban. 2020 Oct 25;49(5):574-580. doi: 10.3785/j.issn.1008-9292.2020.10.04.

DOI:10.3785/j.issn.1008-9292.2020.10.04
PMID:33210482
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC8800753/
Abstract

OBJECTIVE

To analyze the clinical phenotype and genetic characteristics of a family with combined oxidative phosphorylation deficiency 1 (COXPD-1).

METHODS

The whole exome sequencing was performed in parents of the proband; and the genetic defects were verified by Sanger sequencing technology in the dried blood spot of the proband, the amniotic fluid sample of the little brother of proband, and the peripheral blood of the parents.

RESULTS

Whole exome sequencing and Sanger validation showed compound heterozygous mutations of gene c.688G>A(p.G230S) and c.1576C>T (p.R526X) in both the proband and her little brother, and the c.1576C>T of variant was first reported. The two patients were died in early infancy, and presented with metabolic acidosis, high lactic acid, abnormal liver function, feeding difficulties, microcephaly, development retardation and epilepsy.

CONCLUSIONS

gene c.688G>A and c.1576C>T compound heterozygous mutations are the cause of this family of COXPD-1.

摘要

目的

分析1型联合氧化磷酸化缺陷（COXPD - 1）家系的临床表型及遗传特征。

方法

对先证者父母进行全外显子测序；采用Sanger测序技术在先证者干血斑、先证者弟弟羊水样本及父母外周血中验证基因缺陷。

结果

全外显子测序及Sanger验证显示，先证者及其弟弟均存在基因c.688G>A（p.G230S）和c.1576C>T（p.R526X）的复合杂合突变，其中c.1576C>T变异为首次报道。两名患者均于婴儿早期死亡，表现为代谢性酸中毒、高乳酸血症、肝功能异常、喂养困难、小头畸形、发育迟缓及癫痫。

结论

基因c.688G>A和c.1576C>T复合杂合突变是该家系COXPD - 1的致病原因。