A 14-Year-Old Male Patient With Bone Marrow Failure Syndrome, Without Deafness, Caused by a Novel SRP72 Mutation...

Inherited bone marrow failure syndrome 1 (IBMFS1) is a rare autosomal dominant disorder associated with mutations in the SRP72 gene. However, mutations in this gene are exceedingly rare, and the clinical manifestations are often nonspecific, leading to delayed or misdiagnosed cases. The incidence, lifetime risk, and clinical management guidelines for SRP72-related IBMFS1 are poorly understood due to its rarity. Molecular diagnosis is essential for accurate diagnosis, treatment, and prognosis. Here, we report a novel frameshift mutation in the SRP72 gene identified in a 14-year-old patient presenting with pancytopenia. Sanger sequencing revealed that the mutation was inherited from the patient's asymptomatic father. In vitro functional studies indicated a loss-of-function mechanism. Our case expands the mutation spectrum of the SRP72 gene and highlights the importance of genetic testing in identifying hematologic disorders.