Table 4 Description of epigenetic genes associated with vertebral malformations pathogenesis. BWS–Beckwith–Wiedemann syndrome, CS–Congenital scoliosis, ICR1–Imprinting control region 1, ICR2–Imprinting control region 2
From: Molecular landscape of congenital vertebral malformations: recent discoveries and future directions
Gene | Epigenetic change | Conditions | Country of the study | Year of the study | References |
|---|---|---|---|---|---|
CDKN1C | Hypomethylation of the ICR2 in the imprinted region 11p15.5 | BWS | The United States of America | 2003 | [225] |
COL5A1 | Gene hypomethylation | CS | China | 2021 | [145] |
GRID1 | Gene hypomethylation | CS | China | 2021 | [145] |
GSE1 | Gene hypermethylation | CS | China | 2021 | [145] |
H19 IGF2 | Hypermethylation of the ICR1 in the imprinted region 11p15.5 | BWS | United Kingdom | 1997 | [226] |
Hypomethylation of the ICR1 in the imprinted region 11p15.5 | SRS | Switzerland | 2009 | [227] | |
IGHG1 | Gene hypermethylation | CS | China | 2021 | [145] |
IGHG3 | Gene hypermethylation | CS | China | 2021 | [145] |
IGHM | Gene hypermethylation | CS | China | 2021 | [145] |
KAT6B | Gene hypermethylation | CS | China | 2020 | [144] |
KCNQ1OT | Hypomethylation of the ICR2 in the imprinted region 11p15.5 | BWS | The Netherlands | 2001 | [228] |
RGS3 | Gene hypomethylation | CS | China | 2021 | [145] |
RNF213 | Gene hypermethylation | CS | China | 2021 | [145] |
ROBO2 | Gene hypomethylation | CS | China | 2021 | [145] |
SORC2 | Gene hypomethylation | CS | China | 2021 | [145] |
TNS3 | Gene hypermethylation | CS | China | 2022 | [143] |