SRP72基因突变致骨髓衰竭综合征1型1例
A case of SRP72 gene mutation induced bone marrow failure syndrome type 1
王向文 1郝文靖 2耿安阳 1牡丹1
作者信息
- 1. 内蒙古自治区人民医院小儿血液科,内蒙古呼和浩特 010010
- 2. 内蒙古自治区赤峰市医院科教科,内蒙古赤峰 025300
- 折叠
摘要
骨髓衰竭综合征1型(BMFS1)是一种罕见的骨髓衰竭性疾病,由SRP72(NM_006947.4)基因突变所致,需要进行造血干细胞移植(HSCT)治疗.基因检测对该病的诊断和治疗方法选择至关重要.本文报道1例由SRP72基因c.1502+1G＞A自发突变致BMFS1的患儿,并顺利实施HSCT治疗,患儿最终痊愈.本研究发现的c.1502+1G＞A变异,未检索到与BMFS1相关的文献报道.本例患儿的发现扩展了 SRP72基因致病性变异谱和表型谱,为BMSF1的早期诊断和正确治疗的选择提供了典型案例.
Abstract
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.
关键词
SRP72基因/基因突变/骨髓衰竭综合征1型/造血干细胞移植Key words
SRP72 gene/Gene mutation/Bone marrow failure syndrome type 1/Hematopoietic stem cell transplantation引用本文复制引用
基金项目
内蒙古自治区卫生健康委卫生健康科技计划(202201063)
出版年
2024
NETL
NSTL
万方数据