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Deciphering a novel complex inversion affecting F8 in a family with severe haemophilia A by optical genome mapping.通过光学基因组图谱解析一个严重甲型血友病家族中影响F8基因的新型复杂倒位。
Haemophilia. 2023 May;29(3):921-924. doi: 10.1111/hae.14771. Epub 2023 Mar 10.
2
A full molecular picture of F8 intron 1 inversion created with optical genome mapping.通过光学基因组图谱绘制得到的F8内含子1倒位的完整分子图谱。
Haemophilia. 2021 Sep;27(5):e638-e640. doi: 10.1111/hae.14375. Epub 2021 Jul 7.
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Recurrent inversion breaking intron 1 of the factor VIII gene is a frequent cause of severe hemophilia A.因子VIII基因内含子1反复倒位断裂是严重A型血友病的常见病因。
Blood. 2002 Jan 1;99(1):168-74. doi: 10.1182/blood.v99.1.168.
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Severe hemophilia A in a Japanese female caused by an F8-intron 22 inversion associated with skewed X chromosome inactivation.一名日本女性因F8基因内含子22倒位并伴有X染色体失活偏倚而患严重甲型血友病。
Int J Hematol. 2010 Sep;92(2):405-8. doi: 10.1007/s12185-010-0659-9. Epub 2010 Aug 11.
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Another variant pattern of intron 22 inversion in the factor VIII gene seen in a severe haemophilia A patient.在一名重度甲型血友病患者中发现的凝血因子VIII基因内含子22倒位的另一种变异模式。
Thromb Haemost. 1997 Oct;78(4):1303.
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A pericentric inversion of chromosome X disrupting and resulting in haemophilia A.X染色体的臂间倒位破坏并导致甲型血友病。
J Clin Pathol. 2017 Aug;70(8):656-661. doi: 10.1136/jclinpath-2016-204050. Epub 2017 Jan 10.
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Haemophilia A, factor VIII intron 22 inversion screening using subcycling-PCR.甲型血友病，采用亚循环聚合酶链反应进行凝血因子 VIII 内含子 22 倒位筛查。
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Intron 22 inversions and haemophilia.内含子22倒位与血友病
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F8 intron 22 inversions and SNP rs73563631 in unrelated families with severe haemophilia A: clinical features and gene testing implications.重度甲型血友病非亲缘家庭中的F8内含子22倒位及单核苷酸多态性rs73563631：临床特征及基因检测意义
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Identification of an F8 complex recombination in Chinese hemophilia a patient using long-read sequencing and optical genome mapping.使用长读长测序和光学基因组图谱鉴定一名中国血友病A患者中的F8复合体重组。
BMC Med Genomics. 2025 Aug 27;18(1):138. doi: 10.1186/s12920-025-02202-8.
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Optical genome mapping identified deletions, inversions, and insertions in hemophilia.光学基因组图谱鉴定出了血友病中的缺失、倒位和插入。
Blood Adv. 2025 Jan 28;9(2):360-364. doi: 10.1182/bloodadvances.2024014762.
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Prenatal risk assessment of Xp21.1 duplication involving the gene by optical genome mapping.通过光学基因组图谱对涉及该基因的Xp21.1重复进行产前风险评估。
Life Sci Alliance. 2024 Aug 8;7(11). doi: 10.26508/lsa.202402780. Print 2024 Nov.
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Complete F9 Gene Deletion, Duplication, and Triplication Rearrangements: Implications for Factor IX Expression and Clinical Phenotypes.完整的 F9 基因缺失、重复和三重复排列：对因子 IX 表达和临床表型的影响。
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1
A full molecular picture of F8 intron 1 inversion created with optical genome mapping.通过光学基因组图谱绘制得到的F8内含子1倒位的完整分子图谱。
Haemophilia. 2021 Sep;27(5):e638-e640. doi: 10.1111/hae.14375. Epub 2021 Jul 7.
2
RAB39B-mediated trafficking of the GluA2-AMPAR subunit controls dendritic spine maturation and intellectual disability-related behaviour.RAB39B 介导的 GluA2-AMPAR 亚基转运控制树突棘成熟和与智力障碍相关的行为。
Mol Psychiatry. 2021 Nov;26(11):6531-6549. doi: 10.1038/s41380-021-01155-5. Epub 2021 May 25.
3
Megabase Length Hypermutation Accompanies Human Structural Variation at 17p11.2.大片段长度突变伴随人类 17p11.2 结构变异。
Cell. 2019 Mar 7;176(6):1310-1324.e10. doi: 10.1016/j.cell.2019.01.045. Epub 2019 Feb 28.
4
Review of molecular mechanisms at distal Xq28 leading to balanced or unbalanced genomic rearrangements and their phenotypic impacts on hemophilia.远端 Xq28 导致平衡或不平衡基因组重排的分子机制综述及其对血友病表型的影响。
Haemophilia. 2018 Sep;24(5):711-719. doi: 10.1111/hae.13569. Epub 2018 Aug 8.
5
Molecular cytogenetic characterization of five F8 complex rearrangements: utility for haemophilia A genetic counselling.五种F8复合重排的分子细胞遗传学特征：对甲型血友病遗传咨询的效用
Haemophilia. 2017 Jul;23(4):e316-e323. doi: 10.1111/hae.13218. Epub 2017 May 5.
6
Clinical characterization of int22h1/int22h2-mediated Xq28 duplication/deletion: new cases and literature review.int22h1/int22h2介导的Xq28重复/缺失的临床特征：新病例及文献综述
BMC Med Genet. 2015 Mar 14;16:12. doi: 10.1186/s12881-015-0157-2.
7
Intron 22 homologous regions are implicated in exons 1-22 duplications of the F8 gene.内含子 22 同源区与 F8 基因外显子 1-22 重复有关。
Eur J Hum Genet. 2013 Sep;21(9):970-6. doi: 10.1038/ejhg.2012.275. Epub 2013 Jan 9.
8
A possible mechanism for Inv22-related F8 large deletions in severe hemophilia A patients with high responding factor VIII inhibitors.Inv22 相关 F8 大片段缺失导致重度血友病 A 患者高反应性因子 VIII 抑制剂产生的可能机制。
J Thromb Haemost. 2012 Oct;10(10):2099-107. doi: 10.1111/j.1538-7836.2012.04897.x.
9
Developing a new generation of tests for genotyping hemophilia-causative rearrangements involving int22h and int1h hotspots in the factor VIII gene.开发新一代检测方法，用于对涉及凝血因子VIII基因中int22h和int1h热点的血友病致病重排进行基因分型。
J Thromb Haemost. 2008 May;6(5):830-6. doi: 10.1111/j.1538-7836.2008.02926.x. Epub 2008 Feb 12.
10
Environmental and genetic factors influencing inhibitor development.影响抑制剂产生的环境和遗传因素。
Semin Hematol. 2004 Jan;41(1 Suppl 1):82-8. doi: 10.1053/j.seminhematol.2003.11.016.

Deciphering a novel complex inversion affecting F8 in a family with severe haemophilia A by optical genome mapping.

作者信息

Fahiminiya Somayyeh, Oikonomopoulos Spyros, Rivard Georges-Etienne, Gandhi Mira, Scott Patrick, Montpetit Alexandre, Chen Shu-Huang, Park KyungHee, Vezina Catherine, Ragoussis Jiannis, Carvalho Claudia M B, Mitchell Grant A, Soucy Jean-Francois, Gauthier Julie

机构信息

Molecular Diagnostic Laboratory, CHU Sainte-Justine, Montréal, Québec, Canada.

Division of Hematology-Oncology, Department of Pathology, Dalhousie University; Queen Elizabeth II Health Sciences Centre, Nova Scotia Health, Halifax, Nova Scotia, Canada.

出版信息

Haemophilia. 2023 May;29(3):921-924. doi: 10.1111/hae.14771. Epub 2023 Mar 10.

DOI:10.1111/hae.14771
PMID:36897533
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC10861022/
Abstract
摘要