Here we report a three-month Chinese boy who presents with anemia from postnatal day 2. He was suspected to have Diamond-Blackfan anemia, according to the clinical result. Thus, whole-exome sequencing was performed for precise diagnosis.
Here, a novel insert mutation c.96dupG in RPS26 was identified by whole-exome sequencing, which caused neonatal DBA in a Chinese boy. This is the first case report of a Chinese DBA10 patient who carries a small insertion in the RPS26 gene. These findings expand the mutation diversity of RPS26 and demonstrate the clinical presentations of the Chinese DBA10 patient.
这里我们报道了一个三个月的中国男孩,他从出生后第2天开始出现贫血。他被怀疑患有Diamond-Blackfan贫血,根据临床结果。因此,为了精确诊断,我们进行了全外显子组测序.
这里,通过全外显子组测序鉴定了RPS26中的一个新的插入突变c.96dupG,这导致了一个中国男孩的新生儿DBA。这是中国DBA10患者的首例报道,该患者在RPS26基因中携带少量插入。这些发现扩大了RPS26的突变多样性,并证明了中国DBA10患者的临床表现。