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Background  We previously associated  HIST1H1E  mutations causing Rahman syndrome with a specific genome-wide methylation pattern.    Results  Methylome analysis from peripheral blood samples of six affected subjects led us to identify a specific hypomethylated profile. This “episignature” was enriched for genes involved in neuronal system development and function. A computational classifier yielded full sensitivity and specificity in detecting subjects with Rahman syndrome. Applying this model to a cohort of undiagnosed probands allowed us to reach diagnosis in one subject.    Conclusions  We demonstrate an epigenetic signature in subjects with Rahman syndrome that can be used to reach molecular diagnosis.

Frameshift mutations at the C-terminus of HIST1H1E result in a specific DNA hypomethylation signature