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Hypomagnesemia with Secondary Hypoparathyroidism and Hypocalcemia due to Novel Variants in the Transient Receptor Potential Cation Channel Subfamily M Member 6 ( ) Gene.因瞬时受体电位阳离子通道亚家族M成员6（ ）基因的新型变异导致的低镁血症伴继发性甲状旁腺功能减退和低钙血症
J Pediatr Genet. 2021 Aug 31;13(1):35-42. doi: 10.1055/s-0041-1733949. eCollection 2024 Mar.
2
A Rare Case of Neonatal Hypomagnesemia with Secondary Hypocalcemia Caused by a Novel Homozygous TRPM6 Gene Variant.一例由新型 TRPM6 基因纯合变体引起的新生儿低镁血症伴低钙血症罕见病例报告。
Am J Case Rep. 2024 Mar 26;25:e942498. doi: 10.12659/AJCR.942498.
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A novel synonymous homozygous variant [c.2538G>A (p.Thr846Thr)] in in a patient with hypomagnesemia with secondary hypocalcemia.在一位伴有低钙血症的低镁血症患者中发现了一种新型同义纯合变异[c.2538G>A (p.Thr846Thr)]。
J Pediatr Endocrinol Metab. 2021 Jul 15;34(11):1481-1486. doi: 10.1515/jpem-2021-0165. Print 2021 Nov 25.
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Hypomagnesemia and functional hypoparathyroidism due to novel mutations in the Mg-channel TRPM6.由于 Mg 通道 TRPM6 的新突变导致的低镁血症和功能性甲状旁腺功能减退症。
Endocr Connect. 2015 Dec;4(4):215-22. doi: 10.1530/EC-15-0066. Epub 2015 Aug 13.
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A novel TRPM6 variant (c.3179T>A) causing familial hypomagnesemia with secondary hypocalcemia.一种导致家族性低镁血症伴继发性低钙血症的新型瞬时受体电位阳离子通道亚家族M成员6（TRPM6）变体（c.3179T>A）。
Endocrinol Diabetes Metab Case Rep. 2020 May 5;2020. doi: 10.1530/EDM-20-0005.
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Novel TRPM6 mutations in familial hypomagnesemia with secondary hypocalcemia.家族性低镁血症伴低钙血症中新型 TRPM6 突变。
Am J Nephrol. 2013;37(6):541-8. doi: 10.1159/000350886. Epub 2013 May 16.
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Novel TRPM6 mutations in 21 families with primary hypomagnesemia and secondary hypocalcemia.21个原发性低镁血症合并继发性低钙血症家庭中的新型瞬时受体电位通道M6（TRPM6）突变
J Am Soc Nephrol. 2005 Oct;16(10):3061-9. doi: 10.1681/ASN.2004110989. Epub 2005 Aug 17.
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Familial Hypomagnesemia With Secondary Hypocalcemia: A Case Report.家族性低镁血症伴继发性低钙血症：一例报告
Cureus. 2021 Nov 23;13(11):e19847. doi: 10.7759/cureus.19847. eCollection 2021 Nov.
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Hypomagnesemia with secondary hypocalcemia is caused by mutations in TRPM6, a new member of the TRPM gene family.伴有继发性低钙血症的低镁血症由TRPM基因家族的新成员TRPM6突变引起。
Nat Genet. 2002 Jun;31(2):166-70. doi: 10.1038/ng889. Epub 2002 May 28.
10
Hereditary hypomagnesemia with secondary hypocalcemia caused by a novel mutation in gene.由一个基因的新突变引起的遗传性低镁血症伴继发性低钙血症。
J Pediatr Endocrinol Metab. 2023 Dec 13;37(2):184-188. doi: 10.1515/jpem-2023-0378. Print 2024 Feb 26.

本文引用的文献

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GPS 5.0: An Update on the Prediction of Kinase-specific Phosphorylation Sites in Proteins.GPS 5.0：蛋白质中激酶特异性磷酸化位点预测的更新。
Genomics Proteomics Bioinformatics. 2020 Feb;18(1):72-80. doi: 10.1016/j.gpb.2020.01.001. Epub 2020 Mar 19.
2
CDD/SPARCLE: the conserved domain database in 2020.CDD/SPARCLE：2020 年的保守结构域数据库。
Nucleic Acids Res. 2020 Jan 8;48(D1):D265-D268. doi: 10.1093/nar/gkz991.
3
The reactome pathway knowledgebase.Reactome 通路知识库。
Nucleic Acids Res. 2020 Jan 8;48(D1):D498-D503. doi: 10.1093/nar/gkz1031.
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The DisGeNET knowledge platform for disease genomics: 2019 update.DisGeNET 疾病基因组学知识平台：2019 年更新。
Nucleic Acids Res. 2020 Jan 8;48(D1):D845-D855. doi: 10.1093/nar/gkz1021.
5
Case of hypomagnesemia with secondary hypocalcemia with a novel mutation.伴有新型突变的继发性低钙血症性低镁血症病例
Neurol India. 2018 Nov-Dec;66(6):1795-1800. doi: 10.4103/0028-3886.246240.
6
STRING v11: protein-protein association networks with increased coverage, supporting functional discovery in genome-wide experimental datasets.STRING v11：具有增强覆盖范围的蛋白质-蛋白质相互作用网络，支持在全基因组实验数据集的功能发现。
Nucleic Acids Res. 2019 Jan 8;47(D1):D607-D613. doi: 10.1093/nar/gky1131.
7
qPhos: a database of protein phosphorylation dynamics in humans.qPhos：人类蛋白质磷酸化动态数据库。
Nucleic Acids Res. 2019 Jan 8;47(D1):D451-D458. doi: 10.1093/nar/gky1052.
8
Histone phosphorylation by TRPM6's cleaved kinase attenuates adjacent arginine methylation to regulate gene expression.TRPM6 裂解激酶的组蛋白磷酸化减弱了相邻精氨酸的甲基化，从而调节基因表达。
Proc Natl Acad Sci U S A. 2017 Aug 22;114(34):E7092-E7100. doi: 10.1073/pnas.1708427114. Epub 2017 Aug 7.
9
Comparative genomic analyses reveal a vast, novel network of nucleotide-centric systems in biological conflicts, immunity and signaling.比较基因组分析揭示了在生物冲突、免疫和信号传导中一个以核苷酸为中心的庞大新型系统网络。
Nucleic Acids Res. 2015 Dec 15;43(22):10633-54. doi: 10.1093/nar/gkv1267. Epub 2015 Nov 20.
10
Hypomagnesemia and functional hypoparathyroidism due to novel mutations in the Mg-channel TRPM6.由于 Mg 通道 TRPM6 的新突变导致的低镁血症和功能性甲状旁腺功能减退症。
Endocr Connect. 2015 Dec;4(4):215-22. doi: 10.1530/EC-15-0066. Epub 2015 Aug 13.

因瞬时受体电位阳离子通道亚家族M成员6（ ）基因的新型变异导致的低镁血症伴继发性甲状旁腺功能减退和低钙血症

Hypomagnesemia with Secondary Hypoparathyroidism and Hypocalcemia due to Novel Variants in the Transient Receptor Potential Cation Channel Subfamily M Member 6 ( ) Gene.

作者信息

Jain Geetanjali, Das Gourab, Malhotra Rakhi, Ramchandran Sateesh, Phani Nagaraja M, Appaswamy Giridharan, Sridharan Upasana, Dwivedi Aradhana

机构信息

Military Hospital, Nasirabad, India.

Army Hospital (Research and Referral), New Delhi, India.

出版信息

J Pediatr Genet. 2021 Aug 31;13(1):35-42. doi: 10.1055/s-0041-1733949. eCollection 2024 Mar.

DOI:10.1055/s-0041-1733949
PMID:38567178
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC10984712/
Abstract

HOMG1 (hypomagnesemia 1, intestinal) or hypomagnesemia with secondary hypocalcemia is a rare autosomal recessive disorder of magnesium metabolism, characterized by impaired magnesium absorption. This disorder may mimic other conditions presenting with neonatal seizures. Here, we report an infant diagnosed to have hypomagnesemia with secondary hypocalcemia due to novel variants in gene.

摘要

HOMG1（低镁血症1型，肠道型）或伴有继发性低钙血症的低镁血症是一种罕见的常染色体隐性镁代谢紊乱疾病，其特征为镁吸收受损。这种疾病可能会与其他表现为新生儿惊厥的病症相似。在此，我们报告一名因基因中的新型变异而被诊断为伴有继发性低钙血症的低镁血症的婴儿。