ArticleAmerican journal of medical genetics. Part A2015
Clinical management of patients with ASXL1 mutations and Bohring-Opitz syndrome, emphasizing the need for Wilms tumor surveillance.
Article in American journal of medical genetics. Part A, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 33 papers.
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Who cites it
33 citing papers in PubMed, 66 citations in OpenAlex.
- Genetic and Epigenetic Drivers of Wilms Tumor Predisposition in Russian Pediatric Patients: A Multicenter Study.International journal of molecular sciences · 2026Article
- Strabismus in Genetic Syndromes: A Review.Clinical & experimental ophthalmology · 2025Review
- Update on Surveillance for Wilms Tumor and Hepatoblastoma in Beckwith-Wiedemann Syndrome and Other Predisposition Syndromes.Clinical cancer research : an official journal of the American Association for Cancer Research · 2024Review
- ASXL1 truncating variants in BOS and myeloid leukemia drive shared disruption of Wnt-signaling pathways but have differential isoform usage of RUNX3.BMC medical genomics · 2024Article
- Generation and Characterization of Induced Pluripotent Stem Cells Carrying An ASXL1 Mutation.Stem cell reviews and reports · 2024Article
- The omics era: a nexus of untapped potential for Mendelian chromatinopathies.Human genetics · 2024Review
- Epigenetic regulation by ASXL1 in myeloid malignancies.International journal of hematology · 2023Review
- Multiomics of Bohring-Opitz syndrome truncating ASXL1 mutations identify canonical and noncanonical Wnt signaling dysregulation.JCI insight · 2023Article
- Review
- Review
- LINC00173 promotes Wilms' tumor progression through MGAT1-mediated MUC3ACell cycle (Georgetown, Tex.) · 2022Article
- Germline Abnormalities in DNA Methylation and Histone Modification and Associated Cancer Risk.Current hematologic malignancy reports · 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
- Rapid progression of myelofibrosis in polycythemia vera patient carrying SRSF2 c.284C>A p.(Pro95His) and unique ASXL1 splice site c.1720-2A>G variant.Journal of clinical laboratory analysis · 2022Article
- New insights on familial colorectal cancer type X syndrome.Scientific reports · 2022Article
- Pediatric onco-nephrology: time to spread the word : Part I: early kidney involvement in children with malignancy.Pediatric nephrology (Berlin, Germany) · 2021Article
- Incidental detection of acquired variants in germline genetic and genomic testing: a points to consider statement of the American College of Medical Genetics and Genomics (ACMG).Genetics in medicine : official journal of the American College of Medical Genetics · 2021Article
- Understanding the phenotypic spectrum of ASXL-related disease: Ten cases and a review of the literature.American journal of medical genetics. Part A · 2021Article
- AFrontiers in pediatrics · 2021Article
- The tale of two genes: from next-generation sequencing to phenotype.Cold Spring Harbor molecular case studies · 2020Article
Corrections and comments
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Authors and funding
15 authors at 10 institutions in 2 countries.
Funding
Abstract
Bohring-Opitz syndrome is a rare genetic condition characterized by distinctive facial features, variable microcephaly, hypertrichosis, nevus flammeus, severe myopia, unusual posture (flexion at the elbows with ulnar deviation, and flexion of the wrists and metacarpophalangeal joints), severe intellectual disability, and feeding issues. Nine patients with Bohring-Opitz syndrome have been identified as having a mutation in ASXL1. We report on eight previously unpublished patients with Bohring-Opitz syndrome caused by an apparent or confirmed de novo mutation in ASXL1. Of note, two patients developed bilateral Wilms tumors. Somatic mutations in ASXL1 are associated with myeloid malignancies, and these reports emphasize the need for Wilms tumor screening in patients with ASXL1 mutations. We discuss clinical management with a focus on their feeding issues, cyclic vomiting, respiratory infections, insomnia, and tumor predisposition. Many patients are noted to have distinctive personalities (interactive, happy, and curious) and rapid hair growth; features not previously reported.
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Registered trials
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.