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Report of four novel variants in ASNS causing asparagine synthetase deficiency and review of literature.

作者信息

Galada Chelna, Hebbar Malavika, Lewis Leslie, Soans Santosh, Kadavigere Rajagopal, Srivastava Anshika, Bielas Stephanie, Girisha Katta M, Shukla Anju

机构信息

Department of Medical Genetics, Kasturba Medical College, Manipal Academy of Higher Education, Manipal, India.

Department of Pediatrics, Kasturba Medical College, Manipal Academy of Higher Education, Manipal, India.

出版信息

Congenit Anom (Kyoto). 2018 Sep;58(5):181-182. doi: 10.1111/cga.12275. Epub 2018 Feb 20.

DOI:10.1111/cga.12275
PMID:29405484
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC6338226/
Abstract
摘要

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本文引用的文献

1
Asparagine Synthetase deficiency-report of a novel mutation and review of literature.天冬酰胺合成酶缺乏症——一种新突变的报告及文献复习。
Metab Brain Dis. 2017 Dec;32(6):1889-1900. doi: 10.1007/s11011-017-0073-6. Epub 2017 Aug 3.
2
The first report of Japanese patients with asparagine synthetase deficiency.日本天冬酰胺合成酶缺乏症患者的首例报告。
Brain Dev. 2017 Mar;39(3):236-242. doi: 10.1016/j.braindev.2016.09.010. Epub 2016 Oct 12.
3
Epileptic Phenotype of Two Siblings with Asparagine Synthesis Deficiency Mimics Neonatal Pyridoxine-Dependent Epilepsy.两名患有天冬酰胺合成缺陷的兄弟姐妹的癫痫表型类似新生儿吡哆醇依赖性癫痫。
Neuropediatrics. 2016 Dec;47(6):399-403. doi: 10.1055/s-0036-1586222. Epub 2016 Aug 14.
4
Diaphragmatic Eventration in Sisters with Asparagine Synthetase Deficiency: A Novel Homozygous ASNS Mutation and Expanded Phenotype.天冬酰胺合成酶缺乏症姐妹中的膈膨升：一种新的纯合ASNS突变及扩展表型
JIMD Rep. 2017;34:1-9. doi: 10.1007/8904_2016_3. Epub 2016 Jul 27.
5
Hyperekplexia, microcephaly and simplified gyral pattern caused by novel ASNS mutations, case report.新型ASNS突变导致的惊吓症、小头畸形和简化脑回模式：病例报告
BMC Neurol. 2016 Jul 15;16:105. doi: 10.1186/s12883-016-0633-0.
6
Asparagine Synthetase Deficiency causes reduced proliferation of cells under conditions of limited asparagine.天冬酰胺合成酶缺乏症导致在天冬酰胺有限的条件下细胞增殖减少。
Mol Genet Metab. 2015 Nov;116(3):178-86. doi: 10.1016/j.ymgme.2015.08.007. Epub 2015 Aug 14.
7
Asparagine Synthetase Deficiency: New Inborn Errors of Metabolism.天冬酰胺合成酶缺乏症：新的先天性代谢缺陷。
JIMD Rep. 2015;22:11-6. doi: 10.1007/8904_2014_405. Epub 2015 Feb 8.
8
Asparagine synthetase deficiency detected by whole exome sequencing causes congenital microcephaly, epileptic encephalopathy and psychomotor delay.通过全外显子组测序检测到的天冬酰胺合成酶缺乏会导致先天性小头畸形、癫痫性脑病和精神运动发育迟缓。
Metab Brain Dis. 2015 Jun;30(3):687-94. doi: 10.1007/s11011-014-9618-0. Epub 2014 Sep 17.
9
Deficiency of asparagine synthetase causes congenital microcephaly and a progressive form of encephalopathy.天冬酰胺合成酶缺乏导致先天性小头畸形和进行性脑病。
Neuron. 2013 Oct 16;80(2):429-41. doi: 10.1016/j.neuron.2013.08.013.