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. 2014 Jul 16;23(4):551–554. doi: 10.1038/ejhg.2014.135

Figure 2.

Figure 2

Family pedigree. Individuals I.1, II.2, II.1 and II.2 underwent exome sequencing, which revealed the p.(Gly157Asp) variant in the PORCN gene in both affected individuals (II.1 and II.2) as well the asymptomatic mother (I.2) who was shown to have 90% skewing of X-inactivation. Further analysis of additional family members revealed that the two female siblings II.3 and II.4 also carry the variant, with 88% and 70% skewing of X-inactivation, respectively. The two females from the previous relationship (II.5 and II.6) have not inherited the variant and demonstrate 54% and 67% skewing of X-inactivation, respectively. Individual I.3 was not tested.