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Female factor IX deficiency due to maternally inherited X-inactivation

Authors


Nancy S. Green, MD, Columbia University Medical Center, 630 West 168 St. Black Building 2-241, New York, NY 10032, USA
Tel.: +212 305 0494;
fax: +212 342 4548;
e-mail: nsg11@columbia.edu

Abstract

Esquilin JM, Takemoto CM, Green, NS. Female factor IX deficiency due to maternally inherited X-inactivation.

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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