Female factor IX deficiency due to maternally inherited X-inactivation

J. M. Esquilin; Clifford M Takemoto; N. S. Green

doi:10.1111/j.1399-0004.2012.01842.x

Female factor IX deficiency due to maternally inherited X-inactivation

J. M. Esquilin, Clifford M Takemoto, N. S. Green

School of Medicine

Research output: Contribution to journal › Article › peer-review

6 Scopus citations

Abstract

X-chromosome inactivation is normally a random event that is regulated by the X chromosome itself. Rarely, females are affected by X-linked disorders from extremely skewed X-chromosome inactivation. Here, we report a family with hemophilia B with female expression through inherited X skewing that appears to be independent of either X chromosome. This finding suggests the possibility of a dominant autosomal contribution to inherited skewed X inactivation.

Original language	English (US)
Pages (from-to)	583-586
Number of pages	4
Journal	Clinical Genetics
Volume	82
Issue number	6
DOIs	https://doi.org/10.1111/j.1399-0004.2012.01842.x
State	Published - Dec 2012

Keywords

Factor IX
Hemophilia B
Skewed inactivation, X-chromosome

ASJC Scopus subject areas

Genetics(clinical)
Genetics

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10.1111/j.1399-0004.2012.01842.x

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abstract = "X-chromosome inactivation is normally a random event that is regulated by the X chromosome itself. Rarely, females are affected by X-linked disorders from extremely skewed X-chromosome inactivation. Here, we report a family with hemophilia B with female expression through inherited X skewing that appears to be independent of either X chromosome. This finding suggests the possibility of a dominant autosomal contribution to inherited skewed X inactivation.",

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AU - Takemoto, Clifford M

AU - Green, N. S.

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AB - X-chromosome inactivation is normally a random event that is regulated by the X chromosome itself. Rarely, females are affected by X-linked disorders from extremely skewed X-chromosome inactivation. Here, we report a family with hemophilia B with female expression through inherited X skewing that appears to be independent of either X chromosome. This finding suggests the possibility of a dominant autosomal contribution to inherited skewed X inactivation.

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KW - Skewed inactivation, X-chromosome

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Female factor IX deficiency due to maternally inherited X-inactivation

Abstract

Keywords

ASJC Scopus subject areas

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