Fig. 3
From: HUWE1 variants cause dominant X-linked intellectual disability: a clinical study of 21 patients
X inactivation patterns in female patients in varying tissues and associated RNA expression analysis. cDNA sequencing was used to determine which allele was preferentially expressed; the green colour indicated the expression pattern of the wild-type allele and the red colour indicated the expression pattern of the mutated allele. The numbers superimposed on bars represent XCI in the specified tissue. *P2 analysed by Taylor et al. In P7, XCI was non-informative due to homozygous AR-alleles, but wt-allele exclusively expressed in blood. In P11, cDNA analysis was performed in one tissue demonstrating preferential expression of the wild-type allele. This was assumed to be true for both tissues. (Color figure online)
