Figure 4.

The hypothesized pathogenic mechanism of metabolic interference in X‐linked female limited ARR3 mutations. In situation A two cells in a female have inactivated different X chromosomes, the wild‐type ARR3 gene and there is normal communication between these cells. Situation B illustrates the expression of the wild‐type ARR3 in a male hemizygotes, both cells express the same ARR3 gene since males have only one X‐chromosome and communication between these cells is normal. The male cells in situation C both express the hemizygotes mutant ARR3, which allow for normal interaction between these cells despite having a mutant ARR3 gene. Lastly, situation D illustrates a female heterozygous for an ARR3 mutation: both cells express a different ARR3 gene causing mosaicism