KCNQ1OT1
MIM.604115 11p15.5
LIT1
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#)
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