ArticleClinical epigenetics2020
Frameshift mutations at the C-terminus of HIST1H1E result in a specific DNA hypomethylation signature.
Article in Clinical epigenetics, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 36 papers.
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Who cites it
36 citing papers in PubMed, 59 citations in OpenAlex.
- A Rare Presentation of HIST1H1E Syndrome with Short Stature and Multiple Pituitary Hormone DeficienciesJournal of clinical research in pediatric endocrinology · 2026Article
- A Rahman Syndrome mutation in histone H1.4 disrupts chromatin compaction and phase separation.Nature communications · 2026Article
- Analysis Methods for Diagnosing Rare Neurodevelopmental Diseases with Episignatures: A Systematic Review of the Literature.Biomedicines · 2025Review
- Unveiling the reproductive risks of PFOS: testicular proteome disruption and hormonal imbalance in male rats†.Biology of reproduction · 2025Article
- Expanding Upon Genomics in Rare Diseases: Epigenomic Insights.International journal of molecular sciences · 2024Review
- DNA methylation profiling in Kabuki syndrome: reclassification of germline KMT2D VUS and sensitivity in validating postzygotic mosaicism.European journal of human genetics : EJHG · 2024Article
- Development of a mouse embryonic stem cell model for investigating the functions of the linker histone H1-4.FEBS open bio · 2024Article
- A case report of a novel HIST1H1E mutation and a review of the bibliography to evaluate the genotype-phenotype correlations.Molecular genetics & genomic medicine · 2023Review
- Identification of a robust DNA methylation signature for Fanconi anemia.American journal of human genetics · 2023Article
- Post-Translation Modifications and Mutations of Human Linker Histone Subtypes: Their Manifestation in Disease.International journal of molecular sciences · 2023Review
- HIST1H1E syndrome with deficiency in multiple pituitary hormones.Clinical pediatric endocrinology : case reports and clinical investigations : official journal of the Japanese Society for Pediatric Endocrinology · 2023Article
- Pan-Cancer Analysis of the Tumorigenic Effect and Prognostic Diagnostic Value of FAM111B in Human Carcinomas.International journal of general medicine · 2023Article
- Article
- Histone H1 regulates non-coding RNA turnover on chromatin in a m6A-dependent manner.Cell reports · 2022Article
- Mutations of the histone linker H1-4 in neurodevelopmental disorders and functional characterization of neurons expressing C-terminus frameshift mutant H1.4.Human molecular genetics · 2022Article
- Expanding the mutational spectrum of Rahman syndrome: A rare disorder with severe intellectual disability and particular facial features in two Chinese patients.Molecular genetics & genomic medicine · 2022Article
- Clinical Utility of a Unique Genome-Wide DNA Methylation Signature forInternational journal of molecular sciences · 2022Article
- Exome sequencing identified a novel HIST1H1E heterozygous protein-truncating variant in a 6-month-old male patient with Rahman syndrome: A case report.Clinical case reports · 2022Article
- Reprogramming of the epigenome in neurodevelopmental disorders.Critical reviews in biochemistry and molecular biology · 2022Review
- Novel diagnostic DNA methylation episignatures expand and refine the epigenetic landscapes of Mendelian disorders.HGG advances · 2022Article
Corrections and comments
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Authors and funding
19 authors at 7 institutions in 5 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundWe previously associated HIST1H1E mutations causing Rahman syndrome with a specific genome-wide methylation pattern.
resultsMethylome 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.
conclusionsWe demonstrate an epigenetic signature in subjects with Rahman syndrome that can be used to reach molecular diagnosis.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.