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Related Experiment Video

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A novel RUNX1 exon 3 - 7 deletion causing a familial platelet disorder.

Ibrahim Almazni1, Pavel Chudakou2, Alison Dawson-Meadows2

  • 1Institute of Cardiovascular Sciences, College of Medical and Dental Sciences, University of Birmingham, Birmingham, UK.

Platelets
|February 22, 2021
PubMed
Summary

Familial Platelet Disorder with associated Myeloid Malignancy (FPDMM) is a rare inherited condition. Researchers identified a novel RUNX1 gene deletion in affected families, improving diagnosis and management of this underdiagnosed disorder.

Keywords:
BleedingCNVNGSRUNX1platelet disorderthrombocytopenia

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Area of Science:

  • Hematology
  • Genetics
  • Oncology

Background:

  • Familial Platelet Disorder with associated Myeloid Malignancy (FPDMM) is a rare inherited disorder.
  • It is characterized by pathogenic germline RUNX1 variants and is often underdiagnosed.
  • RUNX1 mutations are also implicated in approximately 10% of adult acute myeloid leukemia (AML) and other hematologic malignancies.

Observation:

  • A kindred with multiple affected individuals presented with thrombocytopenia and a history of bleeding.
  • Targeted next-generation sequencing (NGS) and MLPA analysis were employed.
  • A novel heterozygous large deletion (exon 3-7) in the RUNX1 gene was detected in all affected family members.

Findings:

  • The identified RUNX1 deletion is predicted to eliminate the Runt-homology DNA-binding domain and part of the Activation domain.
  • The combination of targeted NGS and MLPA effectively detects copy number variants (CNVs) missed by conventional sequencing.
  • This study precisely diagnosed a novel germline RUNX1 deletion in FPDMM.

Implications:

  • Accurate diagnosis of FPDMM enables precise genetic counseling for affected families.
  • Early identification facilitates proactive clinical management to monitor for potential myeloid malignancies.
  • This diagnostic approach highlights the importance of investigating CNVs in inherited hematologic disorders.