Figure 6.

Segregation of F8 and NKAP mutations in the pedigree of patient 3, demonstrating two generations of skewed inactivation of the X-chromosome bearing the mutant NKAP gene (%XCI is indicated in parentheses). Patient 3 and her sister are both obligatory HA carriers carrying the F8 intron 22 inversion mutation. Patient 3 also carries the NKAP mutation and demonstrates complete inactivation of the X chromosome bearing the NKAP mutation, thus presenting with the HA phenotype. The patient’s sister demonstrates random XCI and is an asymptomatic HA carrier. Their mother, who is a carrier of the NKAP mutation, demonstrates skewed XCI.