HIST1H1E Publications

Research Articles

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

May 4, 2017 – Tatton-Brown et al

• Epigenetics and Autism Spectrum Disorders – A Report of an Autism Case with Mutation in H1 Linker Histone HIST1H1e and Literature Review

April 27, 2018 – Duffney et al

• Aberrant Function of the C-Terminal Tail of HIST1H1E Accelerates Cellular Senescence and Causes Premature Aging

September 5, 2019 – Flex et al

• HIST1H1E heterozygous protein-truncating variants cause a recognizable syndrome with intellectual disability and distinctive facial gestalt: A study to clarify the HIST1H1E syndrome phenotype in 30 individuals

October 2019 – Burkardt et al

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

January 7, 2020 – Ciolfi et al

• Expanding the mutational spectrum of Rahman syndrome: A rare disorder with severe intellectual disability and particular facial features in two Chinese patients.

  March 2022 - Zhao J, Lyu G, Ding C, Wang X, Li J, Zhang W, Yang X, Zhang VW.

• Growth pattern of Rahman syndrome.

  March 2019 - Takenouchi T, Uehara T, Kosaki K, Mizuno S.

If you are aware of additional publications that are not listed above, please email info@hist1h1esyndrome.com and we will add them to the list above. Thank you!

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