| General information | Literature | Expression | Regulation | Mutation | Interaction |
Basic Information | |
|---|---|
Gene ID | 10984 |
Name | KCNQ1OT1 |
Synonymous | KCNQ1-AS2|KCNQ10T1|KvDMR1|KvLQT1-AS|LIT1|NCRNA00012;KCNQ1 opposite strand/antisense transcript 1 (non-protein coding);KCNQ1OT1;KCNQ1 opposite strand/antisense transcript 1 (non-protein coding) |
Definition | - |
Position | 11p15 |
Gene type | miscRNA |
Cancer type | Abstract |
| adrenocortical Tumors;Endocrine | pediatric adrenal tumors, other than neuroblastoma, are rare and can be associated with a genetic predisposition. In this report we describe two patients with an isolated and apparently sporadic adrenocortical tumor; one girl with a carcinoma, the other girl with an adenoma. In both patients genetic screening revealed hypomethylation of the KCNQ1OT1 gene, well-known for its association with the Beckwith-Wiedemann syndrome. This represents a likely novel genetic predisposition in patients with adrenocortical tumors without clear phenotypic features of the Beckwith-Wiedemann syndrome. |