Home > A. Molecular pathology > KCNQ1OT1
KCNQ1OT1
MIM.604115 11p15.5
Wednesday 22 September 2004
Pathology
microdeletion of LIT1 in familial Beckwith-Wiedemann Syndrome (15372379)
- When inherited maternally, the deletion causes BWS with silencing of p57(KIP2), indicating deletion of an element important for the regulation of p57(KIP2) expression. (15372379)
- When inherited paternally, there is no phenotype, suggesting that the LIT1 RNA itself is not necessary for normal development in humans. (15372379)
