Mutations and Phenotypes of Unclassifiable Inherited Bone Marrow Failure Syndromes


Sohag University




Inherited BMF Syndrome


Genetic: The whole-exome sequencing

Study type


Funder types




Details and patient eligibility


Inherited bone marrow failure syndromes (IBMFSs) are a diverse collection of genetic illnesses characterized by various degrees of peripheral cytopenias due to defective single-lineage or multi-lineage hematopoiesis, it can manifest itself at birth or later in life.

Full description

Studying the genetic etiology underlying unclassifiable IBMFSs with bone fragility fractures should be useful for clarifying the undiagnosed pathophysiological mechanisms and other accessory factors to improve the diagnosis, follow-up, prognosis, and management of these patients as well as prevent future complications. Moreover, early diagnosis of risk factors of unusual presentations of IBMFSs will be a useful tool for better treatment strategy. In addition, along with typical IBMFSs, novel clinical entities must be included in an overall molecular portrait of IBMF disorders. As a result, comprehensive genetic analysis will be effective in establishing an accurate genetic diagnosis at medical evaluation.


250 estimated patients




Accepts Healthy Volunteers

Inclusion criteria

  • Confirmed a two-generational family with IBMFSs presented with signs and symptoms of bone fragility fractures and admitted or treated in Hematology Division at Internal Medicine Departments of various university hospitals will be screened for enrollment in this study.
  • The investigators will invite the entire family for testing for IBMFSs mutations, and three additional family members consented to participate in this study.

Exclusion criteria

• Patients will be diagnosed with paroxysmal nocturnal hemoglobinuria

  • Patients will be diagnosed with de novo myelodysplastic syndrome
  • IBMFSs-patients will refuse to consent to this study.
  • Serologic evidence of recent virus infection as hepatitis A (HAV), HBV, HCV, HEV, cytomegalovirus (CMV), Epstein-Barr virus (EBV), or positive test for HIV.
  • IBMFSs patients with severe systemic diseases (such as cardiovascular, renal, and hepatic disease) or surgical/medical conditions that might interfere with follow-up instructions.
  • IBMFs patients with psychiatric disorders or a history of drug abuse,

Trial contacts and locations



Central trial contact

Mahmoud I Elbadry, PhD

Data sourced from

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