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Mutations in Epigenetic Regulation Genes are a Major Cause of Overgrowth with Intellectual Disability

Dr. Kate Tatton-Brown and Dr. Nazneen Rahman published research article on HIST1H1E/Rahman Syndrome:

Chromosomal Location, health conditions and other names for this gene

What is HIST1H1E Syndrome and how do you get it?

• HIST1H1E syndrome is a genetic syndrome that includes mild to severe intellectual disability and an increase in height, weight, or head size (overgrowth). The overgrowth is more apparent in infancy and may lessen with time. Other symptoms may include curved fingers, eyes that may not line up in the same direction (strabismus), and facial features such as full cheeks and an increase in the distance between the eyes. The syndrome is caused by changes (mutations) in the HIST1H1E gene. The protein made from the HISTH1E gene helps control which genetic information is turned on (expressed) at any given time. Only one copy of the HIST1H1E gene needs to have a disease-causing genetic change to have HIST1H1E syndrome, which is consistent with an autosomal dominant condition. However, most of the reported cases of HIST1H1E syndrome have not been inherited from the parents, but have been caused by a genetic change that happens by mistake during the making of the egg or sperm (de novo). HIST1H1E syndrome may be suspected by symptoms, but the diagnosis is confirmed by genetic testing. HIST1H1E syndrome is one of a group of disorders that have been associated with overgrowth and intellectual disability. 

How can I help?

• We have set up a medical registry through Invitae.  Please click on the link to support and join further research for HIST1H1E Syndrome/Rahman Syndrome.