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。 - Suppr

Severe hemophilia A in a Japanese female caused by an F8-intron 22 inversion associated with skewed X chromosome inactivation.

作者信息

Miyawaki Yuhri, Suzuki Atsuo, Fujimori Yuhta, Takagi Akira, Murate Takashi, Suzuki Nobuaki, Katsumi Akira, Naoe Tomoki, Yamamoto Koji, Matsushita Tadashi, Takamatsu Junki, Kojima Tetsuhito

出版信息

Int J Hematol. 2010 Sep;92(2):405-8. doi: 10.1007/s12185-010-0659-9. Epub 2010 Aug 11.

DOI:10.1007/s12185-010-0659-9

PMID:20700669

Abstract

摘要

相似文献

Severe hemophilia A in a Japanese female caused by an F8-intron 22 inversion associated with skewed X chromosome inactivation.

Int J Hematol. 2010 Sep;92(2):405-8. doi: 10.1007/s12185-010-0659-9. Epub 2010 Aug 11.

Haemophilia A in two unrelated females due to F8 gene inversions combined with skewed inactivation of X chromosome.

Thromb Haemost. 2009 Apr;101(4):775-8.

Phenotype-genotype correlations in hemophilia A carriers are consistent with the binary role of the phase between F8 and X-chromosome inactivation.

J Thromb Haemost. 2015 Apr;13(4):530-9. doi: 10.1111/jth.12854. Epub 2015 Mar 14.

[Introns 1 and 22 inversions and F8 gene sequencing for molecular diagnosis of hemophilia A in Chile].

Rev Med Chil. 2011 Feb;139(2):189-96. Epub 2011 Jul 11.

Recurrent inversion breaking intron 1 of the factor VIII gene is a frequent cause of severe hemophilia A.

Blood. 2002 Jan 1;99(1):168-74. doi: 10.1182/blood.v99.1.168.

Molecular characterization of female hemophilia A by multiplex ligation-dependent probe amplification analysis and X-chromosome inactivation study.

Blood Coagul Fibrinolysis. 2011 Apr;22(3):211-4. doi: 10.1097/MBC.0b013e328343f873.

Severe female hemophilia A patient caused by a nonsense mutation (p.Gln1686X) of F8 gene combined with skewed X-chromosome inactivation.

Blood Coagul Fibrinolysis. 2015 Dec;26(8):977-8. doi: 10.1097/MBC.0000000000000324.

Inversion of intron 1 is a rare cause of severe hemophilia A in Indian population.

J Thromb Haemost. 2004 Aug;2(8):1481-2. doi: 10.1111/j.1538-7836.2004.00794.x.

Inversion of intron 22 of the factor VIII gene in a girl with severe hemophilia A and Turner's syndrome.

Thromb Haemost. 1999 Oct;82(4):1379.

Frequency of factor VIII intron 1 inversion in a cohort of severe hemophilia A Italian patients.

Haematologica. 2003 May;88(5):ELT17.

引用本文的文献

Skewed X-Chromosome Inactivation and Parental Gonadal Mosaicism Are Implicated in X-Linked Recessive Female Hemophilia Patients.

Diagnostics (Basel). 2022 Sep 20;12(10):2267. doi: 10.3390/diagnostics12102267.

Genetic causes of haemophilia in women and girls.

Haemophilia. 2021 Mar;27(2):e164-e179. doi: 10.1111/hae.14186. Epub 2020 Dec 13.

X Chromosome inactivation: a modifier of factor VIII and IX plasma levels and bleeding phenotype in Haemophilia carriers.

Eur J Hum Genet. 2021 Feb;29(2):241-249. doi: 10.1038/s41431-020-00742-4. Epub 2020 Oct 20.

Spectrum of Molecular Defects in 216 Chinese Families With Hemophilia A: Identification of Noninversion Mutation Hot Spots and 42 Novel Mutations.

Clin Appl Thromb Hemost. 2018 Jan;24(1):70-78. doi: 10.1177/1076029616687848. Epub 2017 Jan 5.

The Bleeding Assessment Tool and laboratory data in the characterisation of a female with inherited haemophilia A.

Blood Transfus. 2018 Jan;16(1):114-117. doi: 10.2450/2016.0132-16. Epub 2016 Nov 15.

本文引用的文献

A proximal conserved repeat in the Xist gene is essential as a genomic element for X-inactivation in mouse.

Development. 2009 Jan;136(1):139-46. doi: 10.1242/dev.026427. Epub 2008 Nov 26.

Skewed X chromosome inactivation in fraternal female twins results in moderately severe and mild haemophilia B.

Haemophilia. 2008 Sep;14(5):1088-93. doi: 10.1111/j.1365-2516.2008.01786.x. Epub 2008 Jun 5.

Developing a new generation of tests for genotyping hemophilia-causative rearrangements involving int22h and int1h hotspots in the factor VIII gene.

J Thromb Haemost. 2008 May;6(5):830-6. doi: 10.1111/j.1538-7836.2008.02926.x. Epub 2008 Feb 12.

Female hemophilia A heterozygous for a de novo frameshift and a novel missense mutation of factor VIII.

J Thromb Haemost. 2006 Sep;4(9):1969-74. doi: 10.1111/j.1538-7836.2006.02105.x. Epub 2006 Jun 27.

Inversions of the factor VIII gene in Japanese patients with severe hemophilia A.

Int J Hematol. 2004 Apr;79(3):303-6. doi: 10.1532/ijh97.03138.

The factor VIII gene intron 1 inversion mutation: prevalence in severe hemophilia A patients in the UK.

J Thromb Haemost. 2004 Jan;2(1):205-6. doi: 10.1111/j.1538-7836.2004.0562i.x.

Gene action in the X-chromosome of the mouse (Mus musculus L.).

Nature. 1961 Apr 22;190:372-3. doi: 10.1038/190372a0.

Skewed X-chromosome inactivation in monochorionic diamniotic twin sisters results in severe and mild hemophilia A.

Blood. 2002 Oct 15;100(8):3034-6. doi: 10.1182/blood-2002-01-0277.

Recurrent inversion breaking intron 1 of the factor VIII gene is a frequent cause of severe hemophilia A.

Blood. 2002 Jan 1;99(1):168-74. doi: 10.1182/blood.v99.1.168.

Definitions in hemophilia. Recommendation of the scientific subcommittee on factor VIII and factor IX of the scientific and standardization committee of the International Society on Thrombosis and Haemostasis.

Thromb Haemost. 2001 Mar;85(3):560.

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Severe hemophilia A in a Japanese female caused by an F8-intron 22 inversion associated with skewed X chromosome inactivation.

作者信息

Miyawaki Yuhri, Suzuki Atsuo, Fujimori Yuhta, Takagi Akira, Murate Takashi, Suzuki Nobuaki, Katsumi Akira, Naoe Tomoki, Yamamoto Koji, Matsushita Tadashi, Takamatsu Junki, Kojima Tetsuhito

出版信息

Int J Hematol. 2010 Sep;92(2):405-8. doi: 10.1007/s12185-010-0659-9. Epub 2010 Aug 11.

DOI:10.1007/s12185-010-0659-9

PMID:20700669

Abstract

摘要

相似文献

Severe hemophilia A in a Japanese female caused by an F8-intron 22 inversion associated with skewed X chromosome inactivation.

Int J Hematol. 2010 Sep;92(2):405-8. doi: 10.1007/s12185-010-0659-9. Epub 2010 Aug 11.

Haemophilia A in two unrelated females due to F8 gene inversions combined with skewed inactivation of X chromosome.

Thromb Haemost. 2009 Apr;101(4):775-8.

Phenotype-genotype correlations in hemophilia A carriers are consistent with the binary role of the phase between F8 and X-chromosome inactivation.

J Thromb Haemost. 2015 Apr;13(4):530-9. doi: 10.1111/jth.12854. Epub 2015 Mar 14.

[Introns 1 and 22 inversions and F8 gene sequencing for molecular diagnosis of hemophilia A in Chile].

Rev Med Chil. 2011 Feb;139(2):189-96. Epub 2011 Jul 11.

Recurrent inversion breaking intron 1 of the factor VIII gene is a frequent cause of severe hemophilia A.

Blood. 2002 Jan 1;99(1):168-74. doi: 10.1182/blood.v99.1.168.

Molecular characterization of female hemophilia A by multiplex ligation-dependent probe amplification analysis and X-chromosome inactivation study.

Blood Coagul Fibrinolysis. 2011 Apr;22(3):211-4. doi: 10.1097/MBC.0b013e328343f873.

Severe female hemophilia A patient caused by a nonsense mutation (p.Gln1686X) of F8 gene combined with skewed X-chromosome inactivation.

Blood Coagul Fibrinolysis. 2015 Dec;26(8):977-8. doi: 10.1097/MBC.0000000000000324.

Inversion of intron 1 is a rare cause of severe hemophilia A in Indian population.

J Thromb Haemost. 2004 Aug;2(8):1481-2. doi: 10.1111/j.1538-7836.2004.00794.x.

Inversion of intron 22 of the factor VIII gene in a girl with severe hemophilia A and Turner's syndrome.

Thromb Haemost. 1999 Oct;82(4):1379.

Frequency of factor VIII intron 1 inversion in a cohort of severe hemophilia A Italian patients.

Haematologica. 2003 May;88(5):ELT17.

引用本文的文献

Skewed X-Chromosome Inactivation and Parental Gonadal Mosaicism Are Implicated in X-Linked Recessive Female Hemophilia Patients.

Diagnostics (Basel). 2022 Sep 20;12(10):2267. doi: 10.3390/diagnostics12102267.

Genetic causes of haemophilia in women and girls.

Haemophilia. 2021 Mar;27(2):e164-e179. doi: 10.1111/hae.14186. Epub 2020 Dec 13.

X Chromosome inactivation: a modifier of factor VIII and IX plasma levels and bleeding phenotype in Haemophilia carriers.

Eur J Hum Genet. 2021 Feb;29(2):241-249. doi: 10.1038/s41431-020-00742-4. Epub 2020 Oct 20.

Spectrum of Molecular Defects in 216 Chinese Families With Hemophilia A: Identification of Noninversion Mutation Hot Spots and 42 Novel Mutations.

Clin Appl Thromb Hemost. 2018 Jan;24(1):70-78. doi: 10.1177/1076029616687848. Epub 2017 Jan 5.

The Bleeding Assessment Tool and laboratory data in the characterisation of a female with inherited haemophilia A.

Blood Transfus. 2018 Jan;16(1):114-117. doi: 10.2450/2016.0132-16. Epub 2016 Nov 15.

本文引用的文献

A proximal conserved repeat in the Xist gene is essential as a genomic element for X-inactivation in mouse.

Development. 2009 Jan;136(1):139-46. doi: 10.1242/dev.026427. Epub 2008 Nov 26.

Skewed X chromosome inactivation in fraternal female twins results in moderately severe and mild haemophilia B.

Haemophilia. 2008 Sep;14(5):1088-93. doi: 10.1111/j.1365-2516.2008.01786.x. Epub 2008 Jun 5.

Developing a new generation of tests for genotyping hemophilia-causative rearrangements involving int22h and int1h hotspots in the factor VIII gene.

J Thromb Haemost. 2008 May;6(5):830-6. doi: 10.1111/j.1538-7836.2008.02926.x. Epub 2008 Feb 12.

Female hemophilia A heterozygous for a de novo frameshift and a novel missense mutation of factor VIII.

J Thromb Haemost. 2006 Sep;4(9):1969-74. doi: 10.1111/j.1538-7836.2006.02105.x. Epub 2006 Jun 27.

Inversions of the factor VIII gene in Japanese patients with severe hemophilia A.

Int J Hematol. 2004 Apr;79(3):303-6. doi: 10.1532/ijh97.03138.

The factor VIII gene intron 1 inversion mutation: prevalence in severe hemophilia A patients in the UK.

J Thromb Haemost. 2004 Jan;2(1):205-6. doi: 10.1111/j.1538-7836.2004.0562i.x.

Gene action in the X-chromosome of the mouse (Mus musculus L.).

Nature. 1961 Apr 22;190:372-3. doi: 10.1038/190372a0.

Skewed X-chromosome inactivation in monochorionic diamniotic twin sisters results in severe and mild hemophilia A.

Blood. 2002 Oct 15;100(8):3034-6. doi: 10.1182/blood-2002-01-0277.

Recurrent inversion breaking intron 1 of the factor VIII gene is a frequent cause of severe hemophilia A.

Blood. 2002 Jan 1;99(1):168-74. doi: 10.1182/blood.v99.1.168.

Thromb Haemost. 2001 Mar;85(3):560.

Severe hemophilia A in a Japanese female caused by an F8-intron 22 inversion associated with skewed X chromosome inactivation.

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出版信息

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Severe hemophilia A in a Japanese female caused by an F8-intron 22 inversion associated with skewed X chromosome inactivation.

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