ArticleThe Journal of experimental medicine2021
Familial thrombocytopenia due to a complex structural variant resulting in a WAC-ANKRD26 fusion transcript.
Article in The Journal of experimental medicine, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 21 papers.
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Who cites it
21 citing papers in PubMed, 30 citations in OpenAlex.
- Structural variant discovery and diagnostic impact in rare diseases from short-read and long-read sequencing.medRxiv : the preprint server for health sciences · 2026Article
- Article
- Juvenile-Onset Cerebrotendinous Xanthomatosis with Novel Compound Heterozygous CYP27A1 Mutations: Case Series and Literature Review.Cerebellum (London, England) · 2026Review
- Moving Beyond Somatic Alterations: Uncovering the Germline Basis of Myeloid Malignancies.Cancers · 2026Review
- Chromosomal Deletion Involving ANKRD26 Leads to Expression of a Fusion Protein Responsible for ANKRD26-Related Thrombocytopenia.International journal of molecular sciences · 2025Article
- Article
- Article
- Diversity and consequences of structural variation in the human genome.Nature reviews. Genetics · 2025Review
- Genomic and phenotypic correlates of mosaic loss of chromosome Y in blood.American journal of human genetics · 2025Article
- Inherited Thrombocytopenia Related Genes: GPS2 Mediates the Interplay Between ANKRD26 and ETV6.Cells · 2024Article
- Single variant, yet "double trouble": TSC and KBG syndrome because of a large de novo inversion.Life science alliance · 2024Article
- Small polymorphisms are a source of ancestral bias in structural variant breakpoint placement.Genome research · 2024Article
- ANKRD26 is a new regulator of type I cytokine receptor signaling in normal and pathological hematopoiesis.Haematologica · 2023Article
- Small allelic variants are a source of ancestral bias in structural variant breakpoint placement.bioRxiv : the preprint server for biology · 2023Article
- Hereditary platelet disorders associated with germ line variants in RUNX1, ETV6, and ANKRD26.Blood · 2023Article
- Prevalence and natural history of variants in thePlatelets · 2022Review
- Non-coding genetic variation in regulatory elements determines thrombosis and hemostasis phenotypes.Journal of thrombosis and haemostasis : JTH · 2022Review
- Genetics of inherited thrombocytopenias.Blood · 2022Review
- Centers for Mendelian Genomics: A decade of facilitating gene discovery.Genetics in medicine : official journal of the American College of Medical Genetics · 2022Review
- Comprehensive variant calling from whole-genome sequencing identifies a complex inversion that disrupts ZFPM2 in familial congenital diaphragmatic hernia.Molecular genetics & genomic medicine · 2022Article
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18 authors at 2 institutions in 1 country.
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Abstract
Advances in genome sequencing have resulted in the identification of the causes for numerous rare diseases. However, many cases remain unsolved with standard molecular analyses. We describe a family presenting with a phenotype resembling inherited thrombocytopenia 2 (THC2). THC2 is generally caused by single nucleotide variants that prevent silencing of ANKRD26 expression during hematopoietic differentiation. Short-read whole-exome and genome sequencing approaches were unable to identify a causal variant in this family. Using long-read whole-genome sequencing, a large complex structural variant involving a paired-duplication inversion was identified. Through functional studies, we show that this structural variant results in a pathogenic gain-of-function WAC-ANKRD26 fusion transcript. Our findings illustrate how complex structural variants that may be missed by conventional genome sequencing approaches can cause human disease.
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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.