ArticleAmerican journal of medical genetics. Part A2021
Understanding the phenotypic spectrum of ASXL-related disease: Ten cases and a review of the literature.
Article in American journal of medical genetics. Part A, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 20 papers.
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20 citing papers in PubMed, 30 citations in OpenAlex.
- Studying Familial Bainbridge-Ropers Syndrome Due to a NovelChildren (Basel, Switzerland) · 2026Article
- Unleashed condensation by recurrent mutations of an epigenetic regulator promotes cancer.bioRxiv : the preprint server for biology · 2026Article
- Assessing Pubertal Timing, Duration, and Related Characteristics in ASXL-Related Disorders: A Cross-Sectional Caregiver Survey Analysis.American journal of medical genetics. Part A · 2026Article
- Expanding the clinical phenotype associated with an ASXL1 pathogenic variant causing a novel neuromuscular disorder with neurodevelopmental features.BMJ neurology open · 2026Article
- Oncogenic activation of EVC/EVC2 defines a therapeutically targetable subset of acute myeloid leukemia.Leukemia · 2026Article
- Dominant-negative effects of Weaver syndrome-associated EZH2 variants.Genes & development · 2025Article
- Clinical Variability of Shashi-Pena Syndrome: A NovelMolecular syndromology · 2025Article
- A mutant ASXL1-BAP1-EHMT complex contributes to heterochromatin dysfunction in clonal hematopoiesis and chronic monomyelocytic leukemia.Proceedings of the National Academy of Sciences of the United States of America · 2025Article
- Pathogenic Germline Variants in Uveal Melanoma Driver and BAP1-Associated Genes in Finnish Patients with Uveal Melanoma.Pigment cell & melanoma research · 2025Article
- ASXL3 gene variants causing Bainbridge-Ropers syndrome: clinical and genetic analysis of four Chinese patients.Frontiers in neuroscience · 2025Article
- Asxl1 loss in mice leads to microcephaly by regulating neural stem cell survival.Animal cells and systems · 2025Article
- Four heterozygousFrontiers in neuroscience · 2024Article
- Identification of a de novo variant in the ASXL2 gene related to Shashi-Pena syndrome.Molecular genetics & genomic medicine · 2023Article
- A newborn with a pathogenic variant in ASXL2 expanding the phenotype of SHAPNS: a case report and literature review.Translational pediatrics · 2023Article
- RINGs, DUBs and Abnormal Brain Growth-Histone H2A Ubiquitination in Brain Development and Disease.Epigenomes · 2022Review
- ASXL1/2 mutations and myeloid malignancies.Journal of hematology & oncology · 2022Review
- DNA methylation signature associated with Bohring-Opitz syndrome: a new tool for functional classification of variants in ASXL genes.European journal of human genetics : EJHG · 2022Article
- Identification of differential microRNAs and messenger RNAs resulting from ASXL transcriptional regulator 3 knockdown during during heart development.Bioengineered · 2022Review
- AFrontiers in pediatrics · 2021Article
- A clinical conceptual framework for testing and designing neuromotor rehabilitation programs in individuals with Bainbridge Ropers syndrome: a perspective study.Frontiers in neurologyArticle
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Authors and funding
12 authors at 1 institution in 1 country.
Funding
Abstract
Over the past decade, pathogenic variants in all members of the ASXL family of genes, ASXL1, ASXL2, and ASXL3, have been found to lead to clinically distinct but overlapping syndromes. Bohring-Opitz syndrome (BOPS) was first described as a clinical syndrome and later found to be associated with pathogenic variants in ASXL1. This syndrome is characterized by developmental delay, microcephaly, characteristic facies, hypotonia, and feeding difficulties. Subsequently, pathogenic variants in ASXL2 were found to lead to Shashi-Pena syndrome (SHAPNS) and in ASXL3 to lead to Bainbridge-Ropers syndrome (BRPS). While SHAPNS and BRPS share many core features with BOPS, there also seem to be emerging clear differences. Here, we present five cases of BOPS, one case of SHAPNS, and four cases of BRPS. By adding our cohort to the limited number of previously published patients, we review the overlapping features of ASXL-related diseases that bind them together, while focusing on the characteristics that make each neurodevelopmental syndrome unique. This will assist in diagnosis of these overlapping conditions and allow clinicians to more comprehensively counsel affected families.
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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.