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. 1993 Jun;30(6):497–500. doi: 10.1136/jmg.30.6.497

Interaction of incontinentia pigmenti and factor VIII mutations in a female with biased X inactivation, resulting in haemophilia.

R Coleman 1, S A Genet 1, J I Harper 1, A O Wilkie 1
PMCID: PMC1016424  PMID: 8326493

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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Selected References

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