CDKN1C hyperexpression in two patients with severe growth failure and microdeletions affecting the paternally inherited KCNQ1OT1:TSS-DMR

Conclusion
Paternal deletions involving the KCNQ1OT1:TSS-DMR, but not including CDKN1C enhancers, disrupt KCNQ1OT1 expression, strongly activate CDKN1C expression and consequently cause severe growth failure.

Source: Journal of Medical Genetics - November 22, 2022 Category: Genetics & Stem Cells Authors: Hara-Isono, K., Yamazawa, K., Tanaka, S., Nishi, E., Fukami, M., Kagami, M. Tags: Epigenetics Source Type: research