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Hereditary Hemochromatosis Caused by SUGP2 and DENND3 Mutation in China: A Case Report.

作者信息

Qiu Huiqing, Yuan Mengwei, Guo Ziyu, Liang Jiayi, Li Yang, Gao Yan, He Sha, Ma Xiaowei

机构信息

Department of Neurology The First Hospital of Hebei Medical University Shijiazhuang Hebei China.

Department of Neurology Hebei Hospital of Xuanwu Hospital Capital Medical University Shijiazhuang Hebei China.

出版信息

Clin Case Rep. 2024 Dec 2;12(12):e9592. doi: 10.1002/ccr3.9592. eCollection 2024 Dec.

DOI:10.1002/ccr3.9592
PMID:39629038
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC11612258/
Abstract
摘要
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/1a25/11612258/5b67109b5cab/CCR3-12-e9592-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/1a25/11612258/5b67109b5cab/CCR3-12-e9592-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/1a25/11612258/5b67109b5cab/CCR3-12-e9592-g001.jpg

相似文献

1
Hereditary Hemochromatosis Caused by SUGP2 and DENND3 Mutation in China: A Case Report.中国由SUGP2和DENND3突变引起的遗传性血色素沉着症：一例报告
Clin Case Rep. 2024 Dec 2;12(12):e9592. doi: 10.1002/ccr3.9592. eCollection 2024 Dec.
2
Correlation of genotype and phenotype in 32 patients with hereditary hemochromatosis in China.中国 32 例遗传性血色素沉着症患者基因型与表型的相关性。
Orphanet J Rare Dis. 2021 Sep 28;16(1):398. doi: 10.1186/s13023-021-02020-y.
3
SUGP2 p.(Arg639Gln) variant is involved in the pathogenesis of hemochromatosis via the CIRBP/BMPER signaling pathway.SUGP2 p.(Arg639Gln) 变异通过 CIRBP/BMPER 信号通路参与血色病的发病机制。
Am J Hematol. 2024 Sep;99(9):1691-1703. doi: 10.1002/ajh.27377. Epub 2024 May 27.
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DENND3 p.L708V activating variant is involved in the pathogenesis of hereditary hemochromatosis via the RAB12/TFR2 signaling pathway.DENND3 p.L708V 激活变异通过 RAB12/TFR2 信号通路参与遗传性血色素沉着症的发病机制。
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Non- mutations in haemochromatosis in China: combination of heterozygous mutations involving signal peptide variants.中国人血色病中无突变：涉及信号肽变异体的杂合突变组合。
J Med Genet. 2018 Oct;55(10):650-660. doi: 10.1136/jmedgenet-2018-105348. Epub 2018 Aug 30.
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Case report: A rare case of hereditary hemochromatosis caused by a mutation in the HAMP gene in Fuyang, China.病例报告：中国阜阳一例由HAMP基因突变引起的罕见遗传性血色素沉着症病例。
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本文引用的文献

1
Identification of novel non-HFE mutations in Chinese patients with hereditary hemochromatosis.鉴定中国遗传性血色素沉着症患者中的新型非 HFE 突变。
Orphanet J Rare Dis. 2022 Jun 6;17(1):216. doi: 10.1186/s13023-022-02349-y.
2
Chromatin-Associated Protein Sugp2 Involved in mRNA Alternative Splicing During Mouse Spermatogenesis.染色质相关蛋白Sugp2参与小鼠精子发生过程中的mRNA可变剪接。
Front Vet Sci. 2021 Oct 18;8:754021. doi: 10.3389/fvets.2021.754021. eCollection 2021.
3
Correlation of genotype and phenotype in 32 patients with hereditary hemochromatosis in China.
中国 32 例遗传性血色素沉着症患者基因型与表型的相关性。
Orphanet J Rare Dis. 2021 Sep 28;16(1):398. doi: 10.1186/s13023-021-02020-y.
4
ACG Clinical Guideline: Hereditary Hemochromatosis.ACG 临床指南：遗传性血色素沉着症。
Am J Gastroenterol. 2019 Aug;114(8):1202-1218. doi: 10.14309/ajg.0000000000000315.
5
Non- mutations in haemochromatosis in China: combination of heterozygous mutations involving signal peptide variants.中国人血色病中无突变：涉及信号肽变异体的杂合突变组合。
J Med Genet. 2018 Oct;55(10):650-660. doi: 10.1136/jmedgenet-2018-105348. Epub 2018 Aug 30.
6
Gene-gene interactions among coding genes of iron-homeostasis proteins and APOE-alleles in cognitive impairment diseases.铁稳态蛋白编码基因与 APOE 等位基因之间在认知障碍疾病中的基因-基因相互作用。
PLoS One. 2018 Mar 8;13(3):e0193867. doi: 10.1371/journal.pone.0193867. eCollection 2018.
7
Haemochromatosis.血色病。
Lancet. 2016 Aug 13;388(10045):706-16. doi: 10.1016/S0140-6736(15)01315-X. Epub 2016 Mar 12.
8
Iron metabolism and related genetic diseases: A cleared land, keeping mysteries.铁代谢与相关遗传疾病：一片已开垦的土地，仍保留着神秘之处。
J Hepatol. 2016 Feb;64(2):505-515. doi: 10.1016/j.jhep.2015.11.009. Epub 2015 Nov 17.
9
Ironing out the rough spots--cognitive impairment in haemochromatosis.解决棘手问题——血色素沉着症中的认知障碍
BMJ Case Rep. 2012 Jul 3;2012:bcr0320126147. doi: 10.1136/bcr.03.2012.6147.
10
Small GTPase Rab12 regulates constitutive degradation of transferrin receptor.小分子 GTP 酶 Rab12 调节转铁蛋白受体的组成性降解。
Traffic. 2011 Oct;12(10):1432-43. doi: 10.1111/j.1600-0854.2011.01240.x. Epub 2011 Jul 29.