Methylation of the Human AR Locus Does Not Correlate with the Presence of Inactivated X Chromosome in Induced Pluripotent Stem Cells

X-Linked Myotubular Myopathy in a Female Patient with a Pathogenic Variant in the MTM1 Gene

“…If the authors only determined the inactivation ratio by analyzing the methylation of the AR promotor, it is entirely possible that the results (no skew detected) do not represent the actual situation. A. V. Panova states that methylation of the AR locus does not correlate with the X chromosome inactivation ratio in female stem cells with induced pluripotency and recommends carrying out clinical diagnostics using alternative regions or locus combinations, which would allow one to analyze the X chromosome inactivation ratio with more precision [24]. The same conclusion was made by B. Bertelsen et al, who determined the differences between X chromosome inactivation ratios obtained with various methods, including AR and FMR1 analysis.…”