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The University of Southampton
Wessex Imprinting GroupInformation for patients

Hypomethylation Syndrome

So far this condition has been found in patients who first present with 6q24 transient neonatal diabetes.

Some features that have been noted in more than one patient with hypomethylation syndrome include:

It has been reported that some siblings have been found to have this condition. But more research is required to establish how this condition is inherited.


Genetic Causes

This was first described by the Wessex Imprinting group in 2006 and is currently being actively investigated. It was discovered because patients with transient neonatal diabetes due to loss of maternal methylation at 6q24 (see Transient Neonatal Diabetes page) were subsequently found to have a problem in the ‘silencing’ of other imprinted genes so this is a more generalised disorder. Sometimes this condition is due to a fault in a control gene called ZFP57 – this gene regulates the imprinting mechanism.

References for Hypomethylation Syndrome

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