Researchers have identified a new variant in the MECOM gene that is associated with severe thrombocytopenia, according to findings recently published in the Journal of Medical Case Reports.
Mutations in the MECOM gene can lead to MECOM-associated syndrome, which comprises a variety of symptoms including low platelet counts, also known as thrombocytopenia, bone marrow failure and organ dysfunction. Some individuals with severe fetal and neonatal alloimmune thrombocytopenia (FNAIT) may also harbor mutations in the MECOM gene.
The case report described a newborn female who was born at 36 weeks gestation with respiratory failure and severe thrombocytopenia. Physical examination showed slow reflexes and muscle weakness, and imaging revealed severe intracranial hemorrhage.
Although the patient received several blood transfusions, her hemoglobin and platelet levels remained low. She experienced multiple organ failure at three days of age, which ultimately lead to her death.
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The patient’s family history showed that both parents had thalassemia, a genetic disorder that impacts the ability to produce hemoglobin. The mother also experienced mild anemia during pregnancy, although no fetal abnormalities were identified during the pregnancy.
Genetic testing revealed a mutation in the MECOM gene that was not identified in the patients or older brother. A search of multiple genetic databases found that the mutation had not been previously reported. Based on guidelines from the American College of Medical Genetics, the authors classified this variant as pathogenic.
The authors then conducted a literature review, finding that various MECOM mutations have been previously reported. Additionally, the type of mutation was found to contribute to diverse clinical presentations.
“Early genetic testing and clinical counseling are crucial when patients present with early-onset thrombocytopenia and skeletal deformities,” the authors concluded.
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