Latifi Atbin, Yousefian Sina
School of Medicine Arak University of Medical Sciences Arak Iran.
Student Research Committee Arak University of Medical Sciences Arak Iran.
EJHaem. 2025 Aug 28;6(5):e70136. doi: 10.1002/jha2.70136. eCollection 2025 Oct.
Congenital amegakaryocytic thrombocytopenia is a rare inherited bone marrow failure syndrome primarily caused by MPL gene mutations. It presents with severe neonatal thrombocytopenia and typically progresses to pancytopenia. We report the first disease-associated case of the MPL variant c.23T>G, identified through whole-exome sequencing in an infant diagnosed with congenital amegakaryocytic thrombocytopenia. Based on ACMG criteria, we propose classification of the MPL c.23T>G (p.M8R) variant as likely pathogenic. This case highlights the importance of early genetic testing in infants with unexplained thrombocytopenia and emphasizes the need to distinguish congenital amegakaryocytic thrombocytopenia from other inherited bone marrow failure syndromes. : The authors have confirmed clinical trial registration is not needed for this submission.
先天性无巨核细胞性血小板减少症是一种罕见的遗传性骨髓衰竭综合征，主要由MPL基因突变引起。其表现为严重的新生儿血小板减少症，通常会进展为全血细胞减少症。我们报告了首例与疾病相关的MPL变异c.23T>G，该变异是通过对一名诊断为先天性无巨核细胞性血小板减少症的婴儿进行全外显子测序鉴定出来的。根据美国医学遗传学与基因组学学会（ACMG）标准，我们建议将MPL c.23T>G（p.M8R）变异分类为可能致病。该病例突出了对不明原因血小板减少症婴儿进行早期基因检测的重要性，并强调了区分先天性无巨核细胞性血小板减少症与其他遗传性骨髓衰竭综合征的必要性。作者已确认本提交内容无需临床试验注册。
