ArticleHuman genetics2019
Exploring by whole exome sequencing patients with initial diagnosis of Rubinstein-Taybi syndrome: the interconnections of epigenetic machinery disorders.
Article in Human genetics, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 23 papers.
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Who cites it
23 citing papers in PubMed, 38 citations in OpenAlex.
- Article
- Clinical immunology in chromatinopathies: a scoping review.Frontiers in immunology · 2026Article
- Diagnosis and recombinant human growth hormone treatment of Wiedemann-Steiner syndrome: discovery of novel KMT2A variants and review of existing literature.BMC pediatrics · 2025Review
- Molecular genetic analysis of Rubinstein-Taybi syndrome in Russian patients.Frontiers in genetics · 2025Article
- Deficiency ofProceedings of the National Academy of Sciences of the United States of America · 2024Article
- Pattern Recognition of Common Multiple Congenital Malformation Syndromes with Underlying Chromatinopathy.Journal of pediatric genetics · 2024Article
- A Stop-gain Variant c.220C>T (p.(Gln74*)) inThe Yale journal of biology and medicine · 2023Review
- Novel variants and phenotypic heterogeneity in a cohort of 11 Chinese children with Wiedemann-Steiner syndrome.Frontiers in genetics · 2023Article
- Wiedemann-Steiner Syndrome: Case Report and Review of Literature.Children (Basel, Switzerland) · 2022Article
- Ultrasound 2-D and 3-D diagnosis of Rubinstein-Taybi syndrome in a 21-week-old fetus.Journal of ultrasound · 2022Article
- Chromatin Structure and Dynamics: Focus on Neuronal Differentiation and Pathological Implication.Genes · 2022Review
- Review
- Epigenetic disorders: Lessons from the animals-animal models in chromatinopathies.Frontiers in cell and developmental biology · 2022Review
- Genetic Diagnosis of Rubinstein-Taybi Syndrome With Multiplex Ligation-Dependent Probe Amplification (MLPA) and Whole-Exome Sequencing (WES): Case Series With a NovelFrontiers in genetics · 2022Article
- Genetic and clinical heterogeneity in Korean patients with Rubinstein-Taybi syndrome.Molecular genetics & genomic medicine · 2021Article
- SLC35F1 as a candidate gene for neurodevelopmental disorders resembling Rett syndrome.American journal of medical genetics. Part A · 2021Article
- Review
- Expanding the genotypic and phenotypic spectrum in a diverse cohort of 104 individuals with Wiedemann-Steiner syndrome.American journal of medical genetics. Part A · 2021Observational
- Whole-Exome Sequencing for Identifying Genetic Causes of Intellectual Developmental Disorders.International journal of general medicine · 2021Article
- AFrontiers in pediatrics · 2021Article
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Authors and funding
23 authors at 12 institutions in 2 countries.
Funding
Abstract
Rubinstein-Taybi syndrome (RSTS) is an autosomal-dominant neurodevelopmental disease affecting 1:125,000 newborns characterized by intellectual disability, growth retardation, facial dysmorphisms and skeletal abnormalities. RSTS is caused by mutations in genes encoding for writers of the epigenetic machinery: CREBBP (~ 60%) or its homologous EP300 (~ 10%). No causative mutation is identified in up to 30% of patients. We performed whole-exome sequencing (WES) on eight RSTS-like individuals who had normal high-resolution array CGH testing and were CREBBP- and EP300-mutation -negative, to identify the molecular cause. In four cases, we identified putatively causal variants in three genes (ASXL1, KMT2D and KMT2A) encoding members of the epigenetic machinery known to be associated with the Bohring-Opitz, Kabuki and Wiedemann-Steiner syndromes. Each variant is novel, de novo, fulfills the ACMG criteria and is predicted to result in loss-of-function leading to haploinsufficiency of the epi-gene. In two of the remaining cases, homozygous/compound heterozygous variants in XYLT2 and PLCB4 genes, respectively, associated with spondyloocular and auriculocondylar 2 syndromes and in the latter an additional candidate variant in XRN2, a gene yet unrelated to any disease, were detected, but their pathogenicity remains uncertain. These results underscore the broad clinical spectrum of Mendelian disorders of the epigenetic apparatus and the high rate of WES disclosure of the genetic basis in cases which may pose a challenge for phenotype encompassing distinct syndromes. The overlapping features of distinct intellectual disability syndromes reflect common pathogenic molecular mechanisms affecting the complex regulation of balance between open and closed chromatin.
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