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Complete IFN-γR1 Deficiency in a Boy Due to UPD(6)mat with IFNGR1 Novel Splicing Variant.

作者信息

Zhang Ping, Ying Wenjing, Wu Bingbing, Liu Renchao, Wang Huijun, Wang Xiaochuan, Lu Yulan

机构信息

Center for Molecular Medicine, Pediatrics Research Institute, Children's Hospital of Fudan University, 399 Wanyuan Road, Shanghai, 201102, China.

Department of Allergy and Clinical Immunology, Children's Hospital of Fudan University, 399 Wanyuan Road, Shanghai, 201102, China.

出版信息

J Clin Immunol. 2021 May;41(4):834-836. doi: 10.1007/s10875-021-00970-3. Epub 2021 Jan 27.

DOI:10.1007/s10875-021-00970-3
PMID:33501617
Abstract
摘要

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Complete IFN-γR1 Deficiency in a Boy Due to UPD(6)mat with IFNGR1 Novel Splicing Variant.一名男孩因母源6号染色体单亲二倍体及IFNGR1新型剪接变异导致完全性IFN-γR1缺乏症
J Clin Immunol. 2021 May;41(4):834-836. doi: 10.1007/s10875-021-00970-3. Epub 2021 Jan 27.
2
Paternal uniparental isodisomy of chromosome 6 causing a complex syndrome including complete IFN-gamma receptor 1 deficiency.父源单亲二体性 6 号染色体导致复杂综合征，包括完全 IFN-γ 受体 1 缺陷。
Am J Med Genet A. 2010 Mar;152A(3):622-9. doi: 10.1002/ajmg.a.33291.
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Deletion of the entire interferon-γ receptor 1 gene causing complete deficiency in three related patients.三名相关患者中，整个干扰素-γ受体1基因缺失导致完全缺乏。
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The maternal uniparental disomy of chromosome 6 (upd(6)mat) "phenotype": result of placental trisomy 6 mosaicism?6号染色体母源单亲二倍体（upd(6)mat）“表型”：胎盘6号染色体三体性嵌合体的结果？
Mol Genet Genomic Med. 2017 Nov;5(6):668-677. doi: 10.1002/mgg3.324. Epub 2017 Sep 22.
5
Examinations of maternal uniparental disomy and epimutations for chromosomes 6, 14, 16 and 20 in Silver-Russell syndrome-like phenotypes.对具有Silver-Russell综合征样表型的6号、14号、16号和20号染色体的母源单亲二倍体和表观突变的检测。
BMC Med Genet. 2016 Mar 11;17:20. doi: 10.1186/s12881-016-0280-8.
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Two IUGR foetuses with maternal uniparental disomy of chromosome 6 or UPD(6)mat.两个患有母亲6号染色体单亲二倍体（UPD(6)mat）的宫内生长受限胎儿。
J Obstet Gynaecol. 2017 Jan;37(1):113-115. doi: 10.1080/01443615.2016.1242558. Epub 2016 Dec 6.
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Relative frequency of underlying genetic causes for the development of UPD(14)pat-like phenotype.导致 UPD(14)pat 样表型发生的潜在遗传病因的相对频率。
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Silver-Russell syndrome due to maternal uniparental disomy 7 and a familial reciprocal translocation t(7;13).因母源性单亲二体 7 号染色体和家族性相互易位 t(7;13)导致的 Silver-Russell 综合征。
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引用本文的文献

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Maternal Uniparental Isodisomy of Chromosome 6: A Novel Case of Teratoma and Autism Spectrum Disorder with a Diagnostic and Management Framework.6号染色体单亲二体性：畸胎瘤与自闭症谱系障碍的一例新病例及诊断与管理框架
Genes (Basel). 2025 Apr 5;16(4):434. doi: 10.3390/genes16040434.
2
Alternative Splicing as a Modulator of the Interferon-Gamma Pathway.可变剪接作为干扰素-γ 通路的调节因子
Cancers (Basel). 2025 Feb 10;17(4):594. doi: 10.3390/cancers17040594.
3
Clinical features associated with maternal uniparental disomy for chromosome 6.

本文引用的文献

1
Clinical exome sequencing as the first-tier test for diagnosing developmental disorders covering both CNV and SNV: a Chinese cohort.临床外显子组测序作为一线检测方法，用于诊断涵盖 CNV 和 SNV 的发育障碍：一项中国队列研究。
J Med Genet. 2020 Aug;57(8):558-566. doi: 10.1136/jmedgenet-2019-106377. Epub 2020 Jan 31.
2
LINE-1-Mediated AluYa5 Insertion Underlying Complete Autosomal Recessive IFN-γR1 Deficiency.完全性常染色体隐性干扰素-γ受体1缺乏症背后的LINE-1介导的AluYa5插入
J Clin Immunol. 2019 Oct;39(7):739-742. doi: 10.1007/s10875-019-00667-8. Epub 2019 Aug 3.
3
Current Status of the Management of Mendelian Susceptibility to Mycobacterial Disease in Mainland China.
与母亲6号染色体单亲二体相关的临床特征。
Mol Cytogenet. 2024 Jul 29;17(1):18. doi: 10.1186/s13039-024-00688-y.
4
Recombinant IFN-γ1b Treatment in a Patient with Inherited IFN-γ Deficiency.重组 IFN-γ1b 治疗遗传性 IFN-γ 缺陷患者。
J Clin Immunol. 2024 Feb 16;44(3):62. doi: 10.1007/s10875-024-01661-5.
5
Case Report: Complete Maternal Uniparental Isodisomy of Chromosome 5 (iUPD(5)mat) With Nonsense Variant in an Infant With Recurrent Diarrhea.病例报告：一名反复腹泻婴儿的5号染色体完全母源性单亲二体（iUPD(5)mat）伴无义变异
Front Genet. 2021 May 6;12:668326. doi: 10.3389/fgene.2021.668326. eCollection 2021.
中国内地孟德尔易感性分枝杆菌病管理的现状。
J Clin Immunol. 2019 Aug;39(6):600-610. doi: 10.1007/s10875-019-00672-x. Epub 2019 Jul 31.
4
A Novel Recessive Mutation of Interferon-γ Receptor 1 in a Patient with Mycobacterium tuberculosis in Bone Marrow Aspirate.骨髓穿刺涂片中一名结核分枝杆菌患者的干扰素-γ受体1新型隐性突变
J Clin Immunol. 2019 Feb;39(2):127-130. doi: 10.1007/s10875-019-00595-7. Epub 2019 Feb 5.
5
The Exon Junction Complex Undergoes a Compositional Switch that Alters mRNP Structure and Nonsense-Mediated mRNA Decay Activity.外显子连接复合物经历组成性转换，改变 mRNP 结构和无义介导的 mRNA 衰变活性。
Cell Rep. 2018 Nov 27;25(9):2431-2446.e7. doi: 10.1016/j.celrep.2018.11.046. Epub 2018 Nov 19.
6
New human combined immunodeficiency caused by interferon regulatory factor 4 (IRF4) deficiency inherited by uniparental isodisomy.由单亲等二体遗传的干扰素调节因子4（IRF4）缺乏引起的新型人类联合免疫缺陷。
J Allergy Clin Immunol. 2018 May;141(5):1924-1927.e18. doi: 10.1016/j.jaci.2017.12.995. Epub 2018 Mar 2.
7
The maternal uniparental disomy of chromosome 6 (upd(6)mat) "phenotype": result of placental trisomy 6 mosaicism?6号染色体母源单亲二倍体（upd(6)mat）“表型”：胎盘6号染色体三体性嵌合体的结果？
Mol Genet Genomic Med. 2017 Nov;5(6):668-677. doi: 10.1002/mgg3.324. Epub 2017 Sep 22.
8
Primary sulphonylurea therapy in a newborn with transient neonatal diabetes attributable to a paternal uniparental disomy 6q24 (UPD6).一名因父源6号染色体长臂24区单亲二体（UPD6）导致短暂性新生儿糖尿病的新生儿接受原发性磺脲类药物治疗。
Diabetes Obes Metab. 2018 Feb;20(2):474-475. doi: 10.1111/dom.13085. Epub 2017 Oct 5.
9
IFN-γR1 defects: Mutation update and description of the IFNGR1 variation database.IFN-γR1 缺陷：突变更新和 IFNGR1 变异数据库描述。
Hum Mutat. 2017 Oct;38(10):1286-1296. doi: 10.1002/humu.23302. Epub 2017 Aug 3.
10
Paternal uniparental isodisomy of chromosome 6 causing a complex syndrome including complete IFN-gamma receptor 1 deficiency.父源单亲二体性 6 号染色体导致复杂综合征，包括完全 IFN-γ 受体 1 缺陷。
Am J Med Genet A. 2010 Mar;152A(3):622-9. doi: 10.1002/ajmg.a.33291.