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The E273del variant of uncertain significance of the ornithine transcarbamylase gene - a case for reclassification.

作者信息

Ducich Nicole, Ah Mew Nicholas, Bedoyan Jirair K

机构信息

School of Medicine, Case Western Reserve University (CWRU), Cleveland, OH, USA.

Children's National Rare Disease Institute, The George Washington University, Washington, DC, USA.

出版信息

Mol Genet Metab Rep. 2020 May 8;23:100598. doi: 10.1016/j.ymgmr.2020.100598. eCollection 2020 Jun.

DOI:10.1016/j.ymgmr.2020.100598
PMID:32420033
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC7218070/
Abstract
摘要

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本文引用的文献

1
The phenotypic and mutational spectrum of Thai female patients with ornithine transcarbamylase deficiency.泰国女性瓜氨酸血症Ⅰ型患者的表型和突变谱。
Gene. 2018 Dec 30;679:377-381. doi: 10.1016/j.gene.2018.09.026. Epub 2018 Sep 14.
2
Variable X-chromosome inactivation and enlargement of pericentral glutamine synthetase zones in the liver of heterozygous females with OTC deficiency.伴 OTC 缺陷杂合女性肝中 X 染色体失活的可变性和中央区谷氨酰胺合成酶区的扩大。
Virchows Arch. 2018 Jun;472(6):1029-1039. doi: 10.1007/s00428-018-2345-x. Epub 2018 Apr 6.
3
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.
4
Altered neural activation in ornithine transcarbamylase deficiency during executive cognition: an fMRI study.精氨酸转氨甲酰酶缺乏症患者执行认知功能时神经激活改变：一项 fMRI 研究。
Hum Brain Mapp. 2013 Apr;34(4):753-61. doi: 10.1002/hbm.21470. Epub 2011 Nov 23.
5
Orotic acid excretion and arginine metabolism.乳清酸排泄与精氨酸代谢。
J Nutr. 2007 Jun;137(6 Suppl 2):1656S-1661S. doi: 10.1093/jn/137.6.1656S.
6
Genotype spectrum of ornithine transcarbamylase deficiency: correlation with the clinical and biochemical phenotype.鸟氨酸转氨甲酰酶缺乏症的基因型谱：与临床和生化表型的相关性。
Am J Med Genet. 2000 Aug 14;93(4):313-9. doi: 10.1002/1096-8628(20000814)93:4<313::aid-ajmg11>3.0.co;2-m.
7
X-inactivation pattern in the liver of a manifesting female with ornithine transcarbamylase (OTC) deficiency.患有鸟氨酸转氨甲酰酶（OTC）缺乏症的显性女性肝脏中的X染色体失活模式。
Clin Genet. 1998 Oct;54(4):349-53. doi: 10.1034/j.1399-0004.1998.5440415.x.
8
A 3-base pair in-frame deletion in exon 8 (delGlu272/273) of the ornithine transcarbamylase gene in late-onset hyperammonemic coma.
Hum Mutat. 1996;8(4):373-4. doi: 10.1002/(SICI)1098-1004(1996)8:4<373::AID-HUMU13>3.0.CO;2-#.
9
Urea cycle disorders: diagnosis, pathophysiology, and therapy.尿素循环障碍：诊断、病理生理学及治疗
Adv Pediatr. 1996;43:127-70.
10
Risk of serious illness in heterozygotes for ornithine transcarbamylase deficiency.
J Pediatr. 1986 Feb;108(2):236-41. doi: 10.1016/s0022-3476(86)80989-1.