ArticleAmerican journal of medical genetics. Part A2017
Inherited germline ATRX mutation in two brothers with ATR-X syndrome and osteosarcoma.
Article in American journal of medical genetics. Part A, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 22 papers, 1 of them a synthesis that pooled it.
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Who cites it
22 citing papers in PubMed, 1 synthesis or guideline pooled it, 37 citations in OpenAlex.
- ATR-X syndrome: genetics, clinical spectrum, and management.Human genetics · 2021Pooled it
- Article
- Toward clinical exomes in diagnostics and management of male infertility.American journal of human genetics · 2024Article
- Mutant ATRX: pathogenesis of ATRX syndrome and cancer.Frontiers in molecular biosciences · 2024Review
- Targeted therapy for osteosarcoma: a review.Journal of cancer research and clinical oncology · 2023Review
- Review
- Phenotypic Spectrum and Molecular Findings in 17 ATR-X Syndrome Italian Patients: Some New Insights.Genes · 2022Article
- Mutational spectrum of ATRX aberrations in neuroblastoma and associated patient and tumor characteristics.Cancer science · 2022Article
- Identification of a Hemizygous Novel Splicing Variant inFrontiers in pediatrics · 2022Article
- Male Infertility Knowledgebase: decoding the genetic and disease landscape.Database : the journal of biological databases and curation · 2021Article
- Osteosarcoma in One of Identical Twins: Three Cases Report and a Literature Review.Orthopaedic surgery · 2021Review
- Transformed Canine and Murine Mesenchymal Stem Cells as a Model for Sarcoma with Complex Genomics.Cancers · 2021Article
- Targeting Molecular Mechanisms Underlying Treatment Efficacy and Resistance in Osteosarcoma: A Review of Current and Future Strategies.International journal of molecular sciences · 2020Review
- Chromosomal translocation-derived aberrant Rab22a drives metastasis of osteosarcoma.Nature cell biology · 2020Article
- Functional cross talk between the Fanconi anemia and ATRX/DAXX histone chaperone pathways promotes replication fork recovery.Human molecular genetics · 2020Article
- Frequency of Pathogenic Germline Variants in Cancer-Susceptibility Genes in Patients With Osteosarcoma.JAMA oncology · 2020Article
- What's new in bone forming tumours of the skeleton?Virchows Archiv : an international journal of pathology · 2020Review
- Persistence of skewed X-chromosome inactivation in pre-B acute lymphoblastic leukemia of a female ATRX mutation carrier.Blood advances · 2019Article
- A semiautomated whole-exome sequencing workflow leads to increased diagnostic yield and identification of novel candidate variants.Cold Spring Harbor molecular case studies · 2019Article
- G-quadruplex DNA drives genomic instability and represents a targetable molecular abnormality in ATRX-deficient malignant glioma.Nature communications · 2019Article
Corrections and comments
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Authors and funding
11 authors at 2 institutions in 1 country.
Funding
Abstract
We report a family in which two brothers had an undiagnosed genetic disorder comprised of dysmorphic features, microcephaly, severe intellectual disability (non-verbal), mild anemia, and cryptorchidism. Both developed osteosarcoma. Trio exome sequencing (using blood samples from the younger brother and both parents) was performed and a nonsense NM_000489.4:c.7156C>T (p.Arg2386*) mutation in the ATRX gene was identified in the proband (hemizygous) and in the mother's peripheral blood DNA (heterozygous). The mother is healthy, does not exhibit any clinical manifestations of ATR-X syndrome and there was no family history of cancer. The same hemizygous pathogenic variant was confirmed in the affected older brother's skin tissue by subsequent Sanger sequencing. Chromosomal microarray studies of both brothers' osteosarcomas revealed complex copy number alterations consistent with the clinical diagnosis of osteosarcoma. Recently, somatic mutations in the ATRX gene have been observed as recurrent alterations in both osteosarcoma and brain tumors. However, it is unclear if there is any association between osteosarcoma and germline ATRX mutations, specifically in patients with constitutional ATR-X syndrome. This is the first report of osteosarcoma diagnosed in two males with ATR-X syndrome, suggesting a potential increased risk for cancer in patients with this disorder.
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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.