Interaction of Incontinentia Pigmenti and Factor VIII Mutations in a Female with Biased X Inactivation, Resulting in Haemophilia

Overview

Journal J Med Genet

Specialty Genetics

Date 1993 Jun 1

PMID 8326493

Citations 5

Authors

R Coleman

S A Genet

J I Harper

A O Wilkie

Affiliations

Soon will be listed here.

Abstract

We report a female infant born to a mother with incontinentia pigmenti (IP) and a father with haemophilia A, who manifests both disorders. Analysis of peripheral blood DNA from the infant, her mother, and two female relatives with IP showed a highly skewed pattern of X inactivation. Random patterns were observed in the infant's two sisters, who do not have IP and have normal carrier activity of factor VIII. Preferential inactivation of the X chromosome bearing the IP mutation, probably by negative selection, appears to have unmasked the factor VIII mutation on the infant's other X chromosome. This illustrates an unusual mechanism for the manifestation of an X linked disease in a heterozygous female.

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