Aberrant X chromosomal rearrangement through multi-step template switching during sister chromatid formation in a patient with severe hemophilia A.,Molecular Genetics & Genomic Medicine

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Aberrant X chromosomal rearrangement through multi-step template switching during sister chromatid formation in a patient with severe hemophilia A.
Molecular Genetics & Genomic Medicine ( IF 1.5 ) Pub Date : 2020-07-05 , DOI: 10.1002/mgg3.1390
Mahiru Tokoro ₁ , Shogo Tamura ₁ , Nobuaki Suzuki ₂ , Misaki Kakihara ₁ , Yuna Hattori ₁ , Koya Odaira ₁ , Sachiko Suzuki ₁ , Akira Takagi _{1,

3} , Akira Katsumi ₄ , Fumihiko Hayakawa ₁ , Shuichi Okamoto ₅ , Atsuo Suzuki ₆ , Takeshi Kanematsu ₆ , Tadashi Matsushita _{2,

6} , Tetsuhito Kojima ₁

Affiliation

Hemophilia A (HA) is an X‐linked recessive bleeding disorder caused by pathogenic variants of the coagulation factor VIII gene (F8). Half of the patients with severe HA have a recurrent inversion in the X chromosome, that is, F8 intron 22 or intron 1 inversion. Here, we characterized an abnormal F8 due to atypical complex X chromosome rearrangements in a Japanese patient with severe HA.

中文翻译：

严重血友病A患者在姐妹染色单体形成过程中通过多步模板切换进行异常X染色体重排。

血友病A（HA）是由凝血因子VIII基因（F8）的致病变异引起的X连锁隐性出血性疾病。患有严重HA的患者中有一半的X染色体复发性倒置，即F8内含子22或内含子1倒置。在此，我们对一名患有严重HA的日本患者中非典型X染色体重排造成的F8异常进行了表征。

更新日期：2020-07-05

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