A case of SRP72 gene mutation induced bone marrow failure syndrome type 1
Bone marrow failure syndrome type 1(BMFS1)is a rare bone marrow failure disease,it is caused by SRP72(NM_006947.4)gene muta-tion and requires hematopoietic stem cell transplantation(HSCT)treatment.Genetic testing is important for the diagnosis and treatment of this dis-ease.A case of BMFS1 caused by de novol mutation c.1502+1G＞A in SRP72 gene was reported,who successfully underwent HSCT and finally recovered.The c.1502+1G＞A variant found in this study was not reported in the literature related to BMFS1.This case expands the pathogenic variant spectrum and phenotypic spectrum of SRP72 gene,and provides a typical case for the early diagnosis and correct treatment of BMSF1.
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