case_images: PMC11765987_01
case_images: Pedigree of the described family. Index case is represented by II7. Patients III1 and III2 have different, non-consanguineous fathers.
case_images: ijms-26-00809-g001.jpg
case_images: PMC11765987_02_ijms-26-00809-g001.jpg
case_images: ijms-26-00809-f001
case_images: The index patient had two male children (Figure 1), aged 18 (III1) and 11 (III2), from two different non-consanguineous relationships.
case_images: Results of X chromosome inactivation studies in patient II7 (here referenced as P1), her mother, and affected son III1 (here referenced as P2). X chromosome inactivation studies were performed on DNA extracted from saliva (a) and blood (b). The top figures depict PCR of the HUMARA gene without prior digestion, showing different size alleles. PCR amplification was also performed on DNA previously digested with Rsa I and Hha I enzymes. Effective digestion occurs when the DNA is unmethylated (these enzymes are sensitive to methylation). Therefore, after this step, the peak corresponding to the active allele will be smaller. By comparing the two peak areas, it is possible to determine the percentage of inactivation (ideally it should be 50:50%, indicating X chromosome random inactivation). In patient II7, the mutated chromosome (allele 2) is preferentially activated, whereas in the mother, the pattern suggests random inactivation. * represents the X chromosome allele carrying the duplication, which is not methylated in II7.
case_images: ijms-26-00809-g002.jpg
case_images: PMC11765987_01_ijms-26-00809-g002.jpg
case_images: ijms-26-00809-f002
case_images: Subsequent X chromosome inactivation studies (Figure 2) using the human androgen receptor (HUMARA) assay revealed in II7 a skewed inactivation, suggesting preferential activation of the X chromosome harboring the duplication, a pattern consistent in both blood and saliva DNA samples.
case_images: PMC11765987_02
case_images: Pedigree of the described family. Index case is represented by II7. Patients III1 and III2 have different, non-consanguineous fathers.
case_images: ijms-26-00809-g001.jpg
case_images: PMC11765987_02_ijms-26-00809-g001.jpg
case_images: ijms-26-00809-f001
case_images: The index patient had two male children (Figure 1), aged 18 (III1) and 11 (III2), from two different non-consanguineous relationships.