ArticleScientific reports2016
The defining DNA methylation signature of Floating-Harbor Syndrome.
Article in Scientific reports, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 38 papers.
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Who cites it
38 citing papers in PubMed, 65 citations in OpenAlex.
- Pediatric floating-harbor syndrome: clinical features and treatment outcomes in a cohort of Chinese children.European journal of pediatrics · 2026Article
- Analysis Methods for Diagnosing Rare Neurodevelopmental Diseases with Episignatures: A Systematic Review of the Literature.Biomedicines · 2025Review
- The genetic basis of human height.Nature reviews. Genetics · 2025Review
- TheFrontiers in medicine · 2025Review
- Expanding Upon Genomics in Rare Diseases: Epigenomic Insights.International journal of molecular sciences · 2024Review
- Combined exome and whole transcriptome sequencing identifies a de novo intronic SRCAP variant causing DEHMBA syndrome with severe sleep disorder.Journal of human genetics · 2024Article
- Care4Rare Canada: Outcomes from a decade of network science for rare disease gene discovery.American journal of human genetics · 2022Review
- DNA Methylation Episignatures in Neurodevelopmental Disorders Associated with Large Structural Copy Number Variants: Clinical Implications.International journal of molecular sciences · 2022Review
- Altered DNA methylation at age-associated CpG sites in children with growth disorders: impact on age estimation?International journal of legal medicine · 2022Article
- Novel diagnostic DNA methylation episignatures expand and refine the epigenetic landscapes of Mendelian disorders.HGG advances · 2022Article
- Further Introduction of DNA Methylation (DNAm) Arrays in Regular Diagnostics.Frontiers in genetics · 2022Review
- Deficiency of TET3 leads to a genome-wide DNA hypermethylation episignature in human whole blood.NPJ genomic medicine · 2021Article
- Severe developmental expressive language disorder due to a frameshift mutation in exon 18 of SRCAP gene, far away from the mutational hotspot in exons 33 and 34 associated to the Floating-Harbor syndrome.Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2021Article
- Identification of a DNA Methylation Episignature in the 22q11.2 Deletion Syndrome.International journal of molecular sciences · 2021Article
- Functional and epigenetic phenotypes of humans and mice with DNMT3A Overgrowth Syndrome.Nature communications · 2021Article
- Truncating SRCAP variants outside the Floating-Harbor syndrome locus cause a distinct neurodevelopmental disorder with a specific DNA methylation signature.American journal of human genetics · 2021Article
- Detection of a DNA Methylation Signature for the Intellectual Developmental Disorder, X-Linked, Syndromic, Armfield Type.International journal of molecular sciences · 2021Article
- Diagnostic Utility of Genome-Wide DNA Methylation Analysis in Mendelian Neurodevelopmental Disorders.International journal of molecular sciences · 2020Review
- Episignatures Stratifying Helsmoortel-Van Der Aa Syndrome Show Modest Correlation with Phenotype.American journal of human genetics · 2020Article
- Translational Opportunities for Microfluidic Technologies to Enable Precision Epigenomics.Analytical chemistry · 2020Article
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Authors and funding
8 authors at 5 institutions in 1 country.
Funding
Abstract
Floating-Harbor syndrome (FHS) is an autosomal dominant genetic condition characterized by short stature, delayed osseous maturation, expressive language impairment, and unique facial dysmorphology. We previously identified mutations in the chromatin remodeling protein SRCAP (SNF2-related CBP Activator Protein) as the cause of FHS. SRCAP has multiple roles in chromatin and transcriptional regulation; however, specific epigenetic consequences of SRCAP mutations remain to be described. Using high resolution genome-wide DNA methylation analysis, we identified a unique and highly specific DNA methylation "epi-signature" in the peripheral blood of individuals with FHS. Both hyper and hypomethylated loci are distributed across the genome, preferentially occurring in CpG islands. Clonal bisulfite sequencing of two hypermethylated (FIGN and STPG2) and two hypomethylated (MYO1F and RASIP1) genes confirmed these findings. The identification of a unique methylation signature in FHS provides further insight into the biological function of SRCAP and provides a unique biomarker for this disorder.
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