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Article

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

Journal of medical genetics - 1 Dec 2022

Hara-Isono Kaori, Yamazawa Kazuki, Tanaka Satsuki, Nishi Eriko, Fukami Maki, Kagami Masayo

Abstract excerpt

BACKGROUND: Two imprinting control centres, H19/IGF2:IG-differentialy methylated region (DMR) and KCNQ1OT1:TSS-DMR, reside on chromosome 11p15.5. Paternal deletions involving the KCNQ1OT1:TSS-DMR result in variable phenotypes, namely, normal phenotype, Silver-Russel syndrome (SRS) and fetal demise. However, expression analyses for CDKN1C in these patients are very limited. CASES: Patient 1 (adult woman) and...

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PMID: 35906012
DOI: 10.1136/jmg-2022-108700

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